ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly)

dbSNP: rs1975686657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002570446 SCV003490852 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 242 of the GUCY2D protein (p.Val242Gly). This variant is not present in population databases (gnomAD no frequency). 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: 974634). 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.
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250826 SCV001426313 likely pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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