ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) (rs141436429)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502087 SCV000596658 uncertain significance not specified 2016-01-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712891 SCV000843442 uncertain significance not provided 2018-04-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778564 SCV000914866 uncertain significance Warburg micro syndrome 1 2018-11-26 criteria provided, single submitter clinical testing The RAB3GAP1 c.2946A>G (p.Ter982TrpextTer3) variant is a stop-lost variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000348 in the European (non-Finnish) population from the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-lost variants and lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Warburg micro syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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