ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1982del (p.Gly661fs)

dbSNP: rs1596965628
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820046 SCV000960738 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-09-04 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: 662412). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly661Valfs*18) 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. RCV000820046 SCV004042883 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.
Ambry Genetics RCV004601291 SCV005095446 pathogenic Hereditary cancer-predisposing syndrome 2024-06-18 criteria provided, single submitter clinical testing The c.1982delG pathogenic mutation, located in coding exon 13 of the CDH1 gene, results from a deletion of one nucleotide at nucleotide position 1982, causing a translational frameshift with a predicted alternate stop codon (p.G661Vfs*18). This variant was reported in an individual diagnosed with gastric cancer, colorectal cancer, and a carcinoid tumor (Adib E et al. Br J Cancer, 2022 Mar;126:797-803). 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.

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