ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.49-3C>T

gnomAD frequency: 0.00006  dbSNP: rs587782366
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328222 SCV001244345 likely benign CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-17 reviewed by expert panel curation The c.49-3C>T variant has been observed in at least 10 individuals without DGC, SRC tumours, or LBC & whose families do not suggest HDGC (BS2; SCV000186304.5, SCV000288486.4). There are at least 3 in silico predictors in agreement that this variant does not affect splicing (BP4). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BS2, BP4.
Ambry Genetics RCV000131330 SCV000186304 likely benign Hereditary cancer-predisposing syndrome 2019-05-04 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.
Invitae RCV000230940 SCV000288486 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-09 criteria provided, single submitter clinical testing
Counsyl RCV000230940 SCV000785739 uncertain significance Hereditary diffuse gastric adenocarcinoma 2017-11-15 criteria provided, single submitter clinical testing
GeneDx RCV001636682 SCV001848077 benign not provided 2015-07-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000131330 SCV002529187 likely benign Hereditary cancer-predisposing syndrome 2021-11-01 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000230940 SCV004020022 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-03-06 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Color Diagnostics, LLC DBA Color Health RCV000131330 SCV004360424 likely benign Hereditary cancer-predisposing syndrome 2023-02-27 criteria provided, single submitter clinical testing

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