ClinVar Miner

Submissions for variant NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn)

dbSNP: rs568089577
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002508294 SCV002817963 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing Has not been previously published in association with neurodevelopmental disorders to our knowledge; Identified in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) (Mayosi et al., 2017; Turkowski et al., 2017; Ghidoni et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33566628, 33831308, 28326674, 31402444, 36975511, 28280076)
Labcorp Genetics (formerly Invitae), Labcorp RCV002508294 SCV003442435 pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 407 of the CDH2 protein (p.Asp407Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of arrhythmogenic cardiomyopathy (PMID: 28280076, 28326674; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 929498). 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. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001194671 SCV001364410 pathogenic Arrhythmogenic right ventricular dysplasia, familial, 14 2020-06-23 no assertion criteria provided literature only

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