ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2545A>G (p.Asn849Asp)

gnomAD frequency: 0.00001  dbSNP: rs876660881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222119 SCV000278661 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-28 criteria provided, single submitter clinical testing The p.N849D variant (also known as c.2545A>G), located in coding exon 16 of the CDH1 gene, results from an A to G substitution at nucleotide position 2545. The asparagine at codon 849 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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 RCV000685079 SCV000812551 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-03-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 849 of the CDH1 protein (p.Asn849Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 234146). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Baylor Genetics RCV003475039 SCV004210568 uncertain significance Familial cancer of breast 2022-03-23 criteria provided, single submitter clinical testing

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