ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.637G>T (p.Val213Phe)

dbSNP: rs756725793
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.