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.12544A>G

CA414813690

693460 (ClinVar)

Gene: MT-ND5
Condition: mitochondrial disease
Inheritance Mode: Mitochondrial inheritance
Link to MONDO
UUID: 144f8242-2731-47b4-93fe-c947959396db

HGVS expressions

NC_012920.1:m.12544A>G
J01415.2:m.12544A>G
ENST00000361567.2:n.208A>G

Uncertain Significance

Met criteria codes 1
BP4
Not Met criteria codes 4
PS3 PS4 PP1 PM2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The m.12544A>G (p.T70A) variant in MT-ND5 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 are two occurrences in the GenBank sequences queried through MITOMAP on 6/29/2020 (1 individual from haplogroup U2e and 1 from L2a). In silico tools (APOGEE) predict this variant to be neutral (score of 0.39, BP4). 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: BP4.
Met criteria codes
BP4
In silico tools (APOGEE) predict this variant to be neutral (score of 0.39, BP4).
Not Met criteria codes
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 to consider for evidence of segregation.
PM2
There are two occurrences in the GenBank sequences queried through MITOMAP 6/29/2020 (1 individual from haplogroup U2e and 1 from L2a).
Approved on: 2021-12-10
Published on: 2021-12-10
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