ClinVar Miner

Submissions for variant NM_001792.5(CDH2):c.820G>A (p.Gly274Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003377538 SCV004096005 uncertain significance Inborn genetic diseases 2023-07-13 criteria provided, single submitter clinical testing The p.G274R variant (also known as c.820G>A), located in coding exon 6 of the CDH2 gene, results from a G to A substitution at nucleotide position 820. The glycine at codon 274 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003730565 SCV004529325 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CDH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 274 of the CDH2 protein (p.Gly274Arg).

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