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

dbSNP: rs1962455069

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001186807	SCV001353387	uncertain significance	Hereditary cancer-predisposing syndrome	2019-07-11	criteria provided, single submitter	clinical testing	This variant causes a C>T nucleotide substitution at the -5 position of intron 1 of the CDH1 gene. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV001186807	SCV003914284	uncertain significance	Hereditary cancer-predisposing syndrome	2023-01-12	criteria provided, single submitter	clinical testing	The c.49-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 2 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003770084	SCV004665137	likely benign	Hereditary diffuse gastric adenocarcinoma	2023-03-24	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003770084	SCV005404277	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.