ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.628G>T (p.Glu210Ter)

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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 RCV002368740 SCV002656653 pathogenic Hereditary cancer-predisposing syndrome 2022-05-13 criteria provided, single submitter clinical testing The p.E210* pathogenic mutation (also known as c.628G>T), located in coding exon 5 of the CDH1 gene, results from a G to T substitution at nucleotide position 628. This changes the amino acid from a glutamic acid to a stop codon within coding exon 5. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. RCV003336563 SCV004044337 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-09 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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