Variant: NR_003051.4(RMRP):n.57C>G

CA192745675

970368 (ClinVar)

Gene: RMRP

Condition: cartilage-hair hypoplasia

Inheritance Mode: Autosomal recessive inheritance

UUID: 1dc72757-73be-419f-b32a-df4329ac3e39

Approved on: 2025-06-10

Published on: 2025-06-10

HGVS expressions

NR_003051.4:n.57C>G
NR_003051.4(RMRP):n.57C>G
NC_000009.12:g.35657963G>C
CM000671.2:g.35657963G>C
NC_000009.11:g.35657960G>C
CM000671.1:g.35657960G>C
NC_000009.10:g.35647960G>C
NG_017041.1:g.5056C>G
NG_033120.1:g.4674G>C
NR_003051.3:n.56C>G

Uncertain Significance

• Met criteria codes: PM2_Supporting

Expert Panel

Severe Combined Immunodeficiency Disease VCEP

Criteria Specification Information

Criteria Specification: ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RMRP Version 1.0.0

Evidence submitted by expert panel

Severe Combined Immunodeficiency Disease VCEP

This variant has been identified in 4 individuals among 700288 (0.000005712) in gnomAD v4.1.0. It has an AF of 0.00001999 in admixed Americans and a Grpmax Filtering AF of 0.000002080, which is below the threshold established by the SCID VCEP (<0.0000447). Therefore this criterion is met: PM2_Supporting. The variant has not been described in patients with cartilage-hair hypoplasia or in trans with any other RMRP variant. In summary, this variant is classified as Uncertain Significance for Autosomal Recessive Cartilage Hair Hypoplasia based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: PM2_Supporting (SCID VCEP specifications version 1).

Met criteria codes

• PM2_Supporting: This variant has been identified in 4 individuals among 700288 (0.000005712) in gnomAD v4.1.0. It has an AF of 0.00001999 in admixed Americans and a Grpmax Filtering AF of 0.000002080, which is below the threshold established by the SCID VCEP (<0.0000447). Therefore this criterion is met: PM2_Supporting.