ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2062G>A (p.Gly688Arg)

gnomAD frequency: 0.00001  dbSNP: rs144291605
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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 RCV001890328 SCV002149691 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 688 of the GUCY2D protein (p.Gly688Arg). This variant is present in population databases (rs144291605, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of Leber congenital amaurosis (PMID: 29068479). ClinVar contains an entry for this variant (Variation ID: 1382488). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GUCY2D protein function. 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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