ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.31G>A (p.Glu11Lys)

gnomAD frequency: 0.00018  dbSNP: rs145054188
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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 RCV001297116 SCV001486102 uncertain significance Leber congenital amaurosis 12 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 11 of the RD3 protein (p.Glu11Lys). This variant is present in population databases (rs145054188, gnomAD 0.07%). 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: 1000912). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
PreventionGenetics, part of Exact Sciences RCV004757396 SCV005360120 uncertain significance RD3-related disorder 2024-05-28 no assertion criteria provided clinical testing The RD3 c.31G>A variant is predicted to result in the amino acid substitution p.Glu11Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.068% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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