ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.2598G>C (p.Lys866Asn) (rs201587670)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556412 SCV000649519 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2017-09-28 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 866 of the GUCY2D protein (p.Lys866Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs201587670, ExAC 0.009%). This variant has been reported in the compound heterozygous state in an individual affected with Leber congenital amaurosis (PMID: 20683928). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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