ClinVar Miner

Submissions for variant NM_001168407.2(RIMS1):c.1536-963del (rs587783021)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778801 SCV000915181 uncertain significance Cone-rod dystrophy 7 2016-05-28 criteria provided, single submitter clinical testing The RIMS1 c.3139delA (p.Thr1047HisfsTer31) variant results in a frameshift and is predicted to result in premature termination of the protein. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal dominant cone-rod dystrophy.
Mendelics RCV000778801 SCV001137177 uncertain significance Cone-rod dystrophy 7 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001495372 SCV001700054 likely benign not provided 2020-05-28 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144472 SCV000189607 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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