ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)

dbSNP: rs1554960390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669236 SCV000793967 likely pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001385798 SCV001585762 pathogenic not provided 2022-08-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553726). 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.Ser380*) 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).
Fulgent Genetics, Fulgent Genetics RCV000669236 SCV005676144 likely pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2024-06-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465489 SCV004207653 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2023-07-13 flagged submission clinical testing

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