ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002899812 SCV003244907 pathogenic not provided 2023-09-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu306Alafs*54) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with USH1C-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV003464633 SCV004207649 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2023-08-17 flagged submission clinical testing

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