ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.467G>A (p.Trp156Ter)

dbSNP: rs1555515215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328401 SCV001244362 pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-04 reviewed by expert panel curation The CDH1 c.467G>A (p.Trp156Ter) variant is predicted to result in a premature stop codon that leads to nonsense mediate decay (PVS1 and PM5_supporting). The variant is absent in the gnomAD cohort (PM2_supporting; http://gnomad.broadinstitute.org). Therefore, this variant meets criteria to be classified as pathogenic based on the ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (CDH1 VCEP specifications version 3.1): PVS1, PM2_supporting, PM5_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV000525870 SCV000637830 pathogenic Hereditary diffuse gastric adenocarcinoma 2017-03-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDH1 are known to be pathogenic. This particular variant has been reported in the literature in an individual with breast or ovarian cancer (PMID: 20616022). This variant is also known as 591G>A and 157Stop in the literature. This sequence change creates a premature translational stop signal at codon 156 (p.Trp156*) of the CDH1 gene. It is expected to result in an absent or disrupted protein product.

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