ClinVar Miner

Submissions for variant NM_001379270.1(CNGA1):c.1525G>A (p.Gly509Arg)

gnomAD frequency: 0.00001  dbSNP: rs544588016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380418 SCV001578483 pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1068762). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CNGA1 function (PMID: 26802146). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This missense change has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 26802146; externalcommunication). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs544588016, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 513 of the CNGA1 protein (p.Gly513Arg).
OMIM RCV003222314 SCV003841142 pathogenic Retinitis pigmentosa 49 2023-02-23 no assertion criteria provided literature only

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