ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.4171C>T (p.Arg1391Cys)

dbSNP: rs376104748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000604920 SCV000731733 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing The p.Arg1391Cys variant in STRC has not been previously reported in individuals with hearing loss, but another variant p.Arg1391Gly at this position has been r eported (Francey 2012). The p.Arg1391Cys variant has been identified in 2/77550 European chromosomes and 2/28082 Latino chromosomes by the Genome Aggregation Da tabase (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs376104748). While the arginine (Arg) at position 1391 is conserved in mammals and evolutionary distan t species, 1 species (gorilla) carries a cysteine (Cys), raising the possibility that this change at this position may be tolerated. Additional computational pr ediction tools suggest that this variant may impact the protein, though this inf ormation is not predictive enough to determine pathogenicity. In summary, the cl inical significance of the p.Arg1391Cys variant is uncertain.
Institute of Rare Diseases, West China Hospital, Sichuan University RCV005052816 SCV005687469 likely pathogenic Autosomal recessive nonsyndromic hearing loss 16 2025-01-09 criteria provided, single submitter research PM3;PM5;PM2_Supporting;PP3

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