ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.696G>T (p.Lys232Asn) (rs181800610)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533934 SCV000649523 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2017-03-16 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 232 of the GUCY2D protein (p.Lys232Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs181800610, ExAC 0.009%) but has not been reported in the literature in individuals with a GUCY2D-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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