ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1023T>G (p.Tyr341Ter)

dbSNP: rs587776398
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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 RCV003328237 SCV001142240 pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-29 reviewed by expert panel curation The c.1023T>G (p.Tyr341*) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein (PVS1, PM5_Supporting). This variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). The variant has been reported in at least one family meeting HDGC clinical criteria (PS4_Supporting; PMID: 27192129). In summary, 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 (Variant Interpretation Guidelines Version 3.1): PVS1, PM2_Supporting, PS4_Supporting, PM5_Supporting.
Laboratório de Genética Humana e Médica, Universidade Federal do Pará RCV000144456 SCV000189522 pathogenic Hereditary diffuse gastric adenocarcinoma no assertion criteria provided not provided Converted during submission to Pathogenic.

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