ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.84C>A (p.Cys28Ter)

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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 RCV002447702 SCV002678526 pathogenic Hereditary cancer-predisposing syndrome 2024-03-22 criteria provided, single submitter clinical testing The p.C28* pathogenic mutation (also known as c.84C>A), located in coding exon 2 of the CDH1 gene, results from a C to A substitution at nucleotide position 84. This changes the amino acid from a cysteine to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003336576 SCV004043887 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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