ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1297C>G (p.Arg433Gly)

gnomAD frequency: 0.00011  dbSNP: rs769749617
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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 RCV001227623 SCV001399987 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 433 of the GUCY2D protein (p.Arg433Gly). This variant is present in population databases (rs769749617, gnomAD 0.04%). This missense change has been observed in individual(s) with clinical features of GUCY2D-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 955053). 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 tolerated. 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.
Ambry Genetics RCV004032607 SCV004879615 uncertain significance Inborn genetic diseases 2024-01-09 criteria provided, single submitter clinical testing The c.1297C>G (p.R433G) alteration is located in exon 4 (coding exon 3) of the GUCY2D gene. This alteration results from a C to G substitution at nucleotide position 1297, causing the arginine (R) at amino acid position 433 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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