ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2392A>G (p.Met798Val)

dbSNP: rs1975911307
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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 RCV001897461 SCV002157357 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-09-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 798 of the GUCY2D protein (p.Met798Val). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1382162). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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