ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2207T>C (p.Met736Thr)

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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 RCV002913405 SCV003252112 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 736 of the GUCY2D protein (p.Met736Thr). This variant is present in population databases (rs756693094, gnomAD 0.03%). This missense change has been observed in individual(s) with GUCY2D-related conditions (Invitae). 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 C55"). 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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