ClinVar Miner

Submissions for variant NM_052995.2(CLRN1):c.274dup (p.Ile92fs) (rs746523071)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169229 SCV000220496 likely pathogenic Usher syndrome, type 3A 2014-07-10 criteria provided, single submitter literature only
Invitae RCV001054127 SCV001218426 pathogenic not provided 2019-12-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CLRN1 gene (p.Ile168Asnfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 65 amino acids of the CLRN1 protein. This variant is present in population databases (rs746523071, ExAC 0.006%). This variant has been observed in individual(s) with Usher syndrome (PMID: 17893653). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 188875). This variant disrupts the C-terminus of the CLRN1 protein. Other variant(s) that disrupt this region (p.Arg207*) have been determined to be pathogenic (PMID: 22952768, 23304067, 26338283). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073703 SCV001239262 pathogenic Retinal dystrophy 2017-04-16 criteria provided, single submitter clinical testing

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