ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu)

dbSNP: rs771172885
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270880 SCV001451657 likely pathogenic Achromatopsia 2 2020-06-05 criteria provided, single submitter clinical testing The CNGA3 c.1280G>T (p.Arg427Leu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. However, a different variant impacting the Arg427 residue, c.1279C>T (p.Arg427Cys), has been reported in association with achromatopsia and is reported to be pathogenic by several laboratories (Nishiguchi et al. 2005; Koeppen et al. 2008; Landrum et al. 2014). The p.Arg427Leu variant is reported at a frequency of 0.000029 in the Latino population of the Genome Aggregation Database though this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Multiple in silico prediction tools suggest this variant is damaging, however this has not been evaluated experimentally. Based on the collective evidence and application of the ACMG criteria, the p.Arg427Leu variant is classified as likely pathogenic for achromatopsia.

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