ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.387+2T>C

dbSNP: rs903144020
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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 RCV001230084 SCV001402553 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-11-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Studies have shown that disruption of this splice site results in the activation of a cryptic splice site in intron 3 and exon 2 (Poster G20 in http://jmd.amjpathol.org/article/S1525-1578(16)30178-7/pdf). RNA analysis provides insufficient evidence to determine the effect of this variant on CDH1 splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 957154). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 of the CDH1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in the loss of 53 or insertion of 19 amino acid residue(s), but is expected to preserve the integrity of the reading-frame.
Baylor Genetics RCV004570571 SCV005060095 uncertain significance Familial cancer of breast 2024-01-21 criteria provided, single submitter clinical testing

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