ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.277G>A (p.Gly93Ser)

gnomAD frequency: 0.00001  dbSNP: rs749432012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001976508 SCV002261730 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-07-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. ClinVar contains an entry for this variant (Variation ID: 1475784). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 93 of the GUCY2D protein (p.Gly93Ser).
GeneDx RCV003223749 SCV003919330 uncertain significance not provided 2022-10-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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