Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
Link to SEPIO compliant JSON-LD document
  • No ClinVar Id was directly found from the curated document
  • ClinVar Id was derived from the Allele Registry.
  • There was no gene found in the curated document received from the VCI/VCEP
  • Gene listed was thus derived from ClinVar and/or CAR
  • See Evidence submitted by expert panel for details.

Variant: NC_012920.1:m.15117T>C

CA913172991

693828 (ClinVar)

Gene: MT-CYB
Condition: mitochondrial disease
Inheritance Mode: Mitochondrial inheritance
Link to MONDO
UUID: 5b0b57c7-1f1c-4f3d-854a-e51b685a21b8

HGVS expressions

NC_012920.1:m.15117T>C
J01415.2:m.15117T>C
ENST00000361789.2:n.371T>C

Uncertain Significance

Met criteria codes 1
PP3
Not Met criteria codes 4
PM2 PS3 PS4 PP1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The m.15117T>C (p.M124T) variant in MT-CYB was reviewed by the Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel as part of the variant pilot for mitochondrial DNA variant specifications (McCormick et al., 2020; PMID: 32906214). There have been no affected individuals reported in the medical literature to our knowledge. There are no large families reported in the medical literature to consider for evidence of segregation. There is one occurrence in the GenBank sequences queried through MITOMAP on 6/29/2020 (1 individual from haplogroup T1a). In silico tools (APOGEE) predict this variant to be pathogenic with a score of 0.7 (PP3). There are no cybrid or single fiber studies reported on this variant. In summary, this variant meets criteria to be classified as uncertain significance for primary mitochondrial disease inherited in a mitochondrial manner. This classification was approved by the NICHD U24 Mitochondrial Disease Variant Curation Expert Panel as of August 20, 2020. Mitochondrial DNA-specific ACMG/AMP criteria applied: PP3.
Met criteria codes
PP3
In silico tools (APOGEE) predict this variant to be pathogenic with a score of 0.7 (PP3).
Not Met criteria codes
PM2
There is one occurrence in the GenBank sequences queried through MITOMAP on 6/29/2020 (1 individual from haplogroup T1a).
PS3
There are no cybrid or single fiber studies reported on this variant.
PS4
There have been no affected individuals reported in the medical literature to our knowledge.
PP1
There are no large families reported in the medical literature to consider for evidence of segregation.
Approved on: 2021-12-10
Published on: 2021-12-10
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