ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs)

dbSNP: rs727503442
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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 RCV000151941 SCV000200474 pathogenic Rare genetic deafness 2014-03-15 criteria provided, single submitter clinical testing The Cys1599fs variant in STRC has not been previously reported in individuals wi th hearing loss and was absent from large population studies. This frameshift va riant is predicted to alter the protein?s amino acid sequence beginning at posit ion 1599 and lead to a premature termination codon 30 amino acids downstream. Th is alteration is then predicted to lead to a truncated or absent protein. In su mmary, this variant meets our criteria to be classified as pathogenic (http://pc pgm.partners.org/LMM).
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003224866 SCV003920943 pathogenic Autosomal recessive nonsyndromic hearing loss 16 2023-02-28 criteria provided, single submitter clinical testing This variant was observed with a CNV

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