ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2100del (p.Val701fs)

dbSNP: rs1555517136
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328434 SCV001142261 pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-29 reviewed by expert panel curation The c.2100del p.(Val701Serfs) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein (PVS1, PM5_Supporting). The variant has been reported in at least one family meeting HDGC clinical criteria (PS4_Supporting; PMID: 26182300). This variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). 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.
Invitae RCV000639209 SCV000760779 pathogenic Hereditary diffuse gastric adenocarcinoma 2022-09-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 492677). This premature translational stop signal has been observed in individual(s) with hereditary diffuse gastric cancer (PMID: 26182300). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val701Serfs*21) in the CDH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070).
Myriad Genetics, Inc. RCV000639209 SCV004043677 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-15 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Mayo Clinic Laboratories, Mayo Clinic RCV000583312 SCV000691827 likely pathogenic not provided no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000583312 SCV001548788 uncertain significance not provided no assertion criteria provided clinical testing

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