ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1544C>T (p.Pro515Leu)

dbSNP: rs1975769511
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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 RCV001247689 SCV001421126 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 515 of the GUCY2D protein (p.Pro515Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. 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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