ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys)

gnomAD frequency: 0.00002  dbSNP: rs61749674
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306870 SCV001496255 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 313 of the GUCY2D protein (p.Arg313Cys). This variant is present in population databases (rs61749674, gnomAD 0.007%). This missense change has been observed in individuals with Leber congenital amaurosis (PMID: 10951519, 34048777; Invitae). ClinVar contains an entry for this variant (Variation ID: 98611). 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GUCY2D function (PMID: 11328726). 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.
GeneDx RCV000084907 SCV001986110 uncertain significance not provided 2020-04-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed with a pathogenic variant in a patient with Leber congenital amaurosis in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Perrault et al., 2000); This variant is associated with the following publications: (PMID: 10951519)
Retina International RCV000084907 SCV000117043 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250827 SCV001426314 likely pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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