ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.49-8C>T

dbSNP: rs774761552
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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 RCV003328338 SCV001142213 likely benign CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-17 reviewed by expert panel curation The c.49-8C>T is an intronic variant in the splice acceptor region of intron 1. This variant has an allele frequency of 0.00001 (2/150178) in gnomAD with a maximum frequency of 0.00003 (2/57282) in the European (Non-Finnish) sub-population. This variant has been reported in at least 12 individuals without DGC, SRC tumours or LBC and whose families do not suggest HDGC (BS2; SCV000529519.4, SCV000557406.3). This variant is predicted to have no impact on splicing by multiple in silico splice site predictors. HumanSpliceFinder predicts that this variant may create an exonic ESS site, but this effect has not been demonstrated experimentally to our knowledge (BP4). In summary, this variant meets criteria to be classified as likely benign based on ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BS2, BP4.
GeneDx RCV001712389 SCV000529519 likely benign not provided 2020-06-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000991077 SCV000557406 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000422103 SCV000600991 uncertain significance not specified 2016-11-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776443 SCV000911955 likely benign Hereditary cancer-predisposing syndrome 2018-03-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000991077 SCV005405386 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-11 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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