ClinVar Miner

Submissions for variant NM_001195794.1(CLRN1):c.658C>T (p.Arg220Ter) (rs373208120)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000408993 SCV000487254 pathogenic Usher syndrome, type 3A 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV001065581 SCV001230547 pathogenic not provided 2019-03-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CLRN1 gene (p.Arg207*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acids of the CLRN1 protein. This variant is present in population databases (rs373208120, ExAC 0.003%). This variant has been observed in several individuals affected with Usher syndrome and to segregate with Usher syndrome in families (PMID: 22952768, 23304067, 26338283). This variant is also known as c.C658T (p.R220X) in the literature. ClinVar contains an entry for this variant (Variation ID: 371628). For these reasons, this variant has been classified as Pathogenic.

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