ClinVar Miner

Submissions for variant NM_000330.3(RS1):c.579del (p.Ile194fs) (rs199469697)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075848 SCV001241487 pathogenic Retinal dystrophy 2019-08-02 criteria provided, single submitter clinical testing
Invitae RCV000058880 SCV001372557 pathogenic not provided 2019-09-04 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the RS1 gene (p.Ile194Serfs*43). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acids of the RS1 protein and extend the protein by an additional 11 amino acids. This variant is not present in population databases (ExAC no frequency). This protein extension has been observed in individuals affected with X-linked retinoschisis (PMID: 29851975, 15932525, 23568735, Invitae). ClinVar contains an entry for this variant (Variation ID: 68076). This variant has been reported to affect RS1 protein function (PMID: 29851975). For these reasons, this variant has been classified as Pathogenic.
Nilou-Genome Lab RCV001526768 SCV001737342 pathogenic Juvenile retinoschisis 2021-06-10 criteria provided, single submitter clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000058880 SCV000090400 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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