ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter)

gnomAD frequency: 0.00001  dbSNP: rs1278026061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390647 SCV001592448 pathogenic not provided 2022-12-02 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: 1076666). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Glu344*) 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).
GeneDx RCV001390647 SCV003853184 pathogenic not provided 2022-10-10 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003463038 SCV004207654 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2023-07-04 criteria provided, single submitter clinical testing

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