ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1433T>C (p.Leu478Pro)

gnomAD frequency: 0.00001  dbSNP: rs766944930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765550 SCV001999112 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001882890 SCV002176229 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 478 of the GUCY2D protein (p.Leu478Pro). This variant is present in population databases (rs766944930, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. ClinVar contains an entry for this variant (Variation ID: 1309381). 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. 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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