ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.70del (p.Asp24fs)

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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 RCV003565684 SCV004315862 pathogenic not provided 2023-08-29 criteria provided, single submitter clinical testing 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). This sequence change creates a premature translational stop signal (p.Asp24Thrfs*23) 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).
Baylor Genetics RCV003464776 SCV004207669 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2023-03-16 flagged submission clinical testing

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