ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2295+4G>A

dbSNP: rs1961384041
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001347320 SCV001541575 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-05-19 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the CDH1 gene. It does not directly change the encoded amino acid sequence of the CDH1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1043240). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Ambry Genetics RCV004036515 SCV005022315 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-26 criteria provided, single submitter clinical testing The c.2295+4G>A intronic variant results from a G to A substitution 4 nucleotides after coding exon 14 in the CDH1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV001347320 SCV005403901 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-23 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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