ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1559dup (p.Ser521fs) (rs1554957167)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669499 SCV000794256 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-09-20 criteria provided, single submitter clinical testing
Invitae RCV000813024 SCV000953357 pathogenic not provided 2018-07-24 criteria provided, single submitter clinical testing The USH1C gene has multiple clinically relevant transcripts. The p.Ser521Phefs*22 variant occurs in alternate transcript NM_153676.3, which corresponds to position c.1284+7591dup in NM_005709.3, the primary transcript listed in the Methods. This sequence change creates a premature translational stop signal (p.Ser521Phefs*22) in the USH1C gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with USH1C-related disease. Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). For these reasons, this variant has been classified as Pathogenic.

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