ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met)

gnomAD frequency: 0.00004  dbSNP: rs561318435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057559 SCV001222058 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 724 of the GUCY2D protein (p.Thr724Met). This variant is present in population databases (rs561318435, gnomAD 0.002%). 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: 852854). 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.
GeneDx RCV001585958 SCV001820319 uncertain significance not provided 2019-02-04 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

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