ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.4702-2A>C

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Total submissions: 1
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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 RCV004018205 SCV004848761 likely pathogenic Rare genetic deafness 2022-08-26 criteria provided, single submitter clinical testing The c.4702-2A>C variant in STRC has not been reported in individuals with disease and was present in 0.01% (9/94622) of chromosomes across all ethnicities by gnomAD (https://gnomad.broadinstitute.org/). This variant occurs within the canonical splice site (+/- 1,2) and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the STRC gene is an established disease mechanism in autosomal recessive non syndromic hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive non syndromic hearing loss. ACMG/AMP criteria applied: PVS1, PM2_Supporting.

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