ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter)

dbSNP: rs876658575
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328280 SCV001142239 pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-29 reviewed by expert panel curation The c.2293C>T (p.Gln765*) 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; SCV000839094.1). 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.
Ambry Genetics RCV000222740 SCV000274004 pathogenic Hereditary cancer-predisposing syndrome 2021-03-10 criteria provided, single submitter clinical testing The p.Q765* pathogenic mutation (also known as c.2293C>T), located in coding exon 14 of the CDH1 gene, results from a C to T substitution at nucleotide position 2293. This changes the amino acid from a glutamine to a stop codon within coding exon 14. This alteration has been observed in at least one individual with a personal and/or family history that is consistent with hereditary diffuse gastric cancer (Ambry internal data). 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.
Mendelics RCV000709398 SCV000839094 pathogenic Hereditary diffuse gastric adenocarcinoma 2018-07-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000709398 SCV004044932 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-15 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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