ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1710del (p.Asn570fs)

dbSNP: rs1961081411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189119 SCV001356324 pathogenic Hereditary cancer-predisposing syndrome 2020-09-20 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 11 of the CDH1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two related individuals affected with diffuse gastric cancer (PMID: 11968084). 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 RCV001384476 SCV001583981 pathogenic Hereditary diffuse gastric adenocarcinoma 2021-12-24 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: 926514). This premature translational stop signal has been observed in individual(s) with diffuse gastric cancer (PMID: 11968084). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn570Lysfs*14) 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. RCV001384476 SCV004045263 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-14 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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