ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1380del (p.Pro461fs)

dbSNP: rs1567508847
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773621 SCV000907315 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 10 of the CDH1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of CDH1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001215396 SCV001387138 pathogenic Hereditary diffuse gastric adenocarcinoma 2019-05-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hereditary diffuse gastric cancer (PMID: 28460635). Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). This sequence change creates a premature translational stop signal (p.Pro461Leufs*20) in the CDH1 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV001215396 SCV004042884 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-13 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 RCV000773621 SCV005022299 pathogenic Hereditary cancer-predisposing syndrome 2024-01-02 criteria provided, single submitter clinical testing The c.1380delA pathogenic mutation, located in coding exon 10 of the CDH1 gene, results from a deletion of one nucleotide at nucleotide position 1380, causing a translational frameshift with a predicted alternate stop codon (p.P461Lfs*20). 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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