ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.387+13T>G

dbSNP: rs2152127104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003624454 SCV004381277 likely benign Hereditary diffuse gastric adenocarcinoma 2023-12-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356560 SCV001551766 uncertain significance not provided no assertion criteria provided clinical testing CDH1, EXON3, c.387+13T>G, r.spl?, Heterozygous, Uncertain SignificancernThe CDH1 c.387+13T>G variant was not identified in the literature nor was it identified in the dbSNP and ClinVar databases. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The variant occurs outside of the splicing consensus sequence and 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. Assessment Date: 2019/07/29.

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