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
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.
PreventionGenetics, part of Exact Sciences RCV003924898 SCV004738654 uncertain significance CDH1-related disorder 2023-12-29 no assertion criteria provided 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 (https://www.ncbi.nlm.nih.gov/clinvar/variation/41785/). 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.

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