ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.545G>T (p.Arg182Leu)

dbSNP: rs747890482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001924226 SCV002200394 uncertain significance Leber congenital amaurosis 12 2023-07-10 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 182 of the RD3 protein (p.Arg182Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RD3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1425041). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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