ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.191del (p.Pro64fs)

dbSNP: rs1850976904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054326 SCV001218635 pathogenic not provided 2019-12-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). This variant has not been reported in the literature in individuals with USH1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro64Argfs*2) in the USH1C gene. It is expected to result in an absent or disrupted protein product.

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