ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.707C>A (p.Ser236Ter)

dbSNP: rs730881663
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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 RCV003328243 SCV001142252 pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-04 reviewed by expert panel curation The c.707C>A (p.Ser236Ter) 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.
GeneDx RCV000160385 SCV000210901 pathogenic not provided 2014-04-19 criteria provided, single submitter clinical testing This pathogenic variant is denoted CDH1 c.707C>A at the cDNA level and p.Ser236Ter (S236X) at the protein level. The substitution creates a nonsense variant, changing a Serine to a premature stop codon (TCA>TAA). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is considered pathogenic.

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