ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1564A>G (p.Lys522Glu)

gnomAD frequency: 0.00002  dbSNP: rs200189360
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001986855 SCV002280039 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-08-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1493938). This variant is present in population databases (rs200189360, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 522 of the GUCY2D protein (p.Lys522Glu).

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