ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.348_373del (p.His116fs)

dbSNP: rs2133917820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919633 SCV002193166 pathogenic not provided 2024-03-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His116Glnfs*24) 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 premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 33576794). ClinVar contains an entry for this variant (Variation ID: 1422631). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471063 SCV004207641 pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2024-03-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042526 SCV005676159 pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2024-04-19 criteria provided, single submitter clinical testing

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