Submissions for variant NM_004360.5(CDH1):c.1711+9G>C

dbSNP: rs368770384

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085745	SCV000259767	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-01-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000579823	SCV000684377	likely benign	Hereditary cancer-predisposing syndrome	2017-05-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780098	SCV000917139	uncertain significance	not specified	2018-12-04	criteria provided, single submitter	clinical testing	Variant summary: The variant, CDH1 c.1711+9G>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 246222 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1711+9G>C in individuals affected with Hereditary Diffuse Gastric Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000205014	SCV001134065	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000205014	SCV001938848	benign	not provided	2015-06-29	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001085745	SCV005405078	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-09-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.