ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.491_492del (p.Val164fs)

dbSNP: rs1850741468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073795 SCV001239357 likely pathogenic Retinal dystrophy 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV001237148 SCV001409899 pathogenic not provided 2020-11-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with USH1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val164Glufs*13) in the USH1C gene. It is expected to result in an absent or disrupted protein product.

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