ClinVar Miner

Submissions for variant NM_001079878.2(CNGA3):c.794G>A (p.Arg265Gln) (rs104893614)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000010083 SCV000914947 pathogenic Achromatopsia 2 2018-11-07 criteria provided, single submitter clinical testing Across a selection of the available literature, the CNGA3 c.848G>A (p.Arg283Gln) variant has been reported in at least four studies and is found in twelve affected individuals including eleven in a compound heterozygous state and one in a heterozygous state with an undetected second allele (Wissinger et al. 2001; Reuter et al. 2008; Genead et al. 2011; Sundaram et al. 2014). Control data are unavailable for this variant, which is reported at a frequency of 0.000063 in the European (non-Finnish) population of the Genome Aggregation Database. Analysis in HEK293 cells found the p.Arg282Gln was associated with deficient trafficking and co-localization with plasma membranes (Reuter et al. 2008). Based on the evidence, the p.Arg283Gln variant is classified as pathogenic for achromatopsia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000010083 SCV000030304 pathogenic Achromatopsia 2 1998-07-01 no assertion criteria provided literature only

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