ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.300C>G (p.Val100=)

dbSNP: rs786201463
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328250 SCV004035120 likely benign CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-02 reviewed by expert panel curation The c.300C>G variant (NM_004360.5) is a synonymous (silent) variant (p.Val100=) that is not predicted by SpliceAI, varSEAK, to impact splicing (BP4). Although this variant is absent in gnomAD v2.1.1 and v3.1 (PM2_Supporting), it has been observed in more than 10 heterozygous individuals with no DCG, SRC tumours, or LBC and whose families do not suggest HDGC (BS2; Ambry Genetics, Invitae, University of Washington). In summary, although there are both pathogenic and benign types of evidence for this variant, the CDH1 VCEP classified the variant as likely benign for DGLBCS based on BS2 alone. (CDH1 VCEP specifications version 3.1; 05/06/2022)
Ambry Genetics RCV000163693 SCV000214267 likely benign Hereditary cancer-predisposing syndrome 2019-05-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000409152 SCV000487923 likely benign Hereditary diffuse gastric adenocarcinoma 2015-12-01 criteria provided, single submitter clinical testing
Invitae RCV000409152 SCV000545474 likely benign Hereditary diffuse gastric adenocarcinoma 2023-09-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163693 SCV000689526 likely benign Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000409152 SCV004020007 benign Hereditary diffuse gastric adenocarcinoma 2023-03-06 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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