Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000779614 | SCV001146805 | uncertain significance | Hearing loss, autosomal recessive 94 | 2024-08-30 | criteria provided, single submitter | curation | This variant is interpreted as variant of uncertain significance for Deafness, autosomal recessive, 94. The following ACMG assertion criteria were applied: The variant is not present in gnomAD v4.1.0 (PM2_supporting ); it has been found in members of a consanguineous family with autosomal recessive deafness and segregated with the disorder in the family (PP1); functional analysis indicates a deleterious effect: contrary to the wild type, this variant is unable to rescue mitochondrial respiratory chain defects in NARS2-null patient fibroblasts (PS3_supporting). |
OMIM | RCV000779614 | SCV000916293 | pathogenic | Hearing loss, autosomal recessive 94 | 2019-05-29 | no assertion criteria provided | literature only |