ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1096del (p.Glu366fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464775 SCV004207668 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2024-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003565683 SCV004319411 pathogenic not provided 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu366Argfs*99) in the USH1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. For these reasons, this variant has been classified as Pathogenic.

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