ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2252A>G (p.Asn751Ser)

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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 RCV003311325 SCV004007971 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-22 criteria provided, single submitter clinical testing The p.N751S variant (also known as c.2252A>G), located in coding exon 14 of the CDH1 gene, results from an A to G substitution at nucleotide position 2252. The asparagine at codon 751 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004572915 SCV005060145 uncertain significance Familial cancer of breast 2023-11-12 criteria provided, single submitter clinical testing

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