ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) (rs33935154)

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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV000013019 SCV000864628 benign Hereditary diffuse gastric cancer 2018-11-21 reviewed by expert panel curation The c.1849G>A (p.Ala617Thr) variant has an allele frequency of 0.04479 (4.5%, 1076/24,022 alleles) in the African subpopulation of the gnomAD cohort (BA1). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel: BA1.
GeneDx RCV000120500 SCV000167597 benign not specified 2013-10-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000130292 SCV000185140 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Pathway Genomics RCV000013019 SCV000223773 benign Hereditary diffuse gastric cancer 2014-10-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120500 SCV000225610 benign not specified 2015-01-22 criteria provided, single submitter clinical testing
Invitae RCV000013019 SCV000261924 benign Hereditary diffuse gastric cancer 2019-12-31 criteria provided, single submitter clinical testing
Vantari Genetics RCV000130292 SCV000267032 benign Hereditary cancer-predisposing syndrome 2016-01-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000013019 SCV000398570 likely benign Hereditary diffuse gastric cancer 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Counsyl RCV000013019 SCV000488401 benign Hereditary diffuse gastric cancer 2016-03-23 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000130292 SCV000576454 likely benign Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing
Color RCV000130292 SCV000684383 benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120500 SCV000806645 benign not specified 2016-12-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000120500 SCV000885159 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
OMIM RCV000013018 SCV000033263 pathogenic Endometrial carcinoma 2003-03-01 no assertion criteria provided literature only
OMIM RCV000013019 SCV000033264 pathogenic Hereditary diffuse gastric cancer 2003-03-01 no assertion criteria provided literature only
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034706 SCV000043247 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000120500 SCV000084653 not provided not specified 2013-09-19 no assertion provided reference population
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000120500 SCV000691824 benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000130292 SCV000787978 benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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