ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2296-1G>A (rs1057517542)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410537 SCV000488067 likely pathogenic Hereditary diffuse gastric cancer 2015-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492413 SCV000580714 pathogenic Hereditary cancer-predisposing syndrome 2019-10-14 criteria provided, single submitter clinical testing The c.2296-1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide upstream from coding exon 15 of the CDH1 gene. This alteration has been seen in multiple patients meeting diagnostic criteria for hereditary diffuse gastric cancer (Ambry internal data). Using the BDGP and ESEfinder in silico models, this alteration is predicted to shift the native splice acceptor site by one nucleotide, causing a translational frameshift; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.
Color Health, Inc RCV000492413 SCV000684420 likely pathogenic Hereditary cancer-predisposing syndrome 2020-05-04 criteria provided, single submitter clinical testing

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