ClinVar Miner

Submissions for variant NM_001792.5(CDH2):c.1496C>G (p.Pro499Arg)

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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 RCV003678116 SCV004426710 uncertain significance not provided 2024-02-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 499 of the CDH2 protein (p.Pro499Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH2-related conditions. 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 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.
Ambry Genetics RCV004614486 SCV005107659 uncertain significance Inborn genetic diseases 2024-03-27 criteria provided, single submitter clinical testing The p.P499R variant (also known as c.1496C>G), located in coding exon 10 of the CDH2 gene, results from a C to G substitution at nucleotide position 1496. The proline at codon 499 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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