ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1996A>C (p.Asn666His)

gnomAD frequency: 0.00009  dbSNP: rs150427791
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165090 SCV000215795 likely benign Hereditary cancer-predisposing syndrome 2021-11-15 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000206535 SCV000261348 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000679568 SCV000567139 uncertain significance not provided 2024-11-15 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Observed in individuals with breast cancer (PMID: 31871109); This variant is associated with the following publications: (PMID: 25186627, 15235021, 22850631, 31871109)
Counsyl RCV000206535 SCV000784986 uncertain significance Hereditary diffuse gastric adenocarcinoma 2017-03-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679568 SCV000806651 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing
Mendelics RCV000206535 SCV000839092 uncertain significance Hereditary diffuse gastric adenocarcinoma 2018-07-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165090 SCV000911483 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679568 SCV001134070 likely benign not provided 2022-10-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001975 SCV001159782 uncertain significance not specified 2018-07-05 criteria provided, single submitter clinical testing The CDH1 c.1996A>C; p.Asn666His variant (rs150427791), to our knowledge, is not reported in the medical literature but is reported as a variant of uncertain significance in ClinVar (Variation ID: 185638). This variant is found in the African population with an overall allele frequency of 0.029% (7/24028 alleles) in the Genome Aggregation Database. The asparagine at codon 666 is weakly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information regarding this variant, its clinical significance is uncertain at this time.
Myriad Genetics, Inc. RCV000206535 SCV004019529 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-03-03 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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