ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys) (rs553907248)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129330 SCV000184093 likely benign Hereditary cancer-predisposing syndrome 2020-09-24 criteria provided, single submitter clinical testing Other strong data supporting benign classification
GeneDx RCV000587509 SCV000210916 uncertain significance not provided 2018-09-11 criteria provided, single submitter clinical testing This variant is denoted CDH1 c.1568A>G at the cDNA level, p.Tyr523Cys (Y523C) at the protein level, and results in the change of a Tyrosine to a Cysteine (TAT>TGT). This variant has been reported in an individual with breast cancer (Hauke 2018). CDH1 Tyr523Cys was observed at an allele frequency of 0.012% (4/34,420) in individuals of Latino ancestry in large population cohorts (Lek 2016). CDH1 Tyr523Cys is located in cadherin 4 of the extracellular domain (Brooks-Wilson 2004, Figueiredo 2013, UniProt). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether CDH1 Tyr523Cys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000206211 SCV000261154 likely benign Hereditary diffuse gastric cancer 2020-12-06 criteria provided, single submitter clinical testing
Counsyl RCV000206211 SCV000488228 uncertain significance Hereditary diffuse gastric cancer 2016-01-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587509 SCV000600961 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000129330 SCV000689467 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587509 SCV000698366 uncertain significance not provided 2015-10-30 criteria provided, single submitter clinical testing

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