ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2077G>A (p.Gly693Ser)

gnomAD frequency: 0.00001  dbSNP: rs386833398
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129247 SCV000184006 likely benign Hereditary cancer-predisposing syndrome 2018-08-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034707 SCV000888029 benign not provided 2018-01-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000129247 SCV002529104 likely benign Hereditary cancer-predisposing syndrome 2021-10-07 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003924898 SCV004738654 uncertain significance CDH1-related disorder 2023-12-29 criteria provided, single submitter clinical testing The CDH1 c.2077G>A variant is predicted to result in the amino acid substitution p.Gly693Ser. This variant has been reported in an individual from an exome sequencing cohort (Johnson et al. 2012. PubMed ID: 22703879). It is reported in 0.0077% of alleles in individuals of European (Non-Finnish) descent in gnomAD and has interpretations in ClinVar of benign and likely benign ( Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034707 SCV000043248 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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