ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6381A>G (p.Gln2127=)

gnomAD frequency: 0.00003  dbSNP: rs765256868
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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 RCV000214198 SCV000277803 likely benign Hereditary cancer-predisposing syndrome 2015-08-17 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.
GeneDx RCV001705227 SCV000731201 likely benign not provided 2019-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004563210 SCV000830370 likely benign Familial adenomatous polyposis 1 2023-12-19 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004563210 SCV005082859 benign Familial adenomatous polyposis 1 2024-04-04 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences RCV003947729 SCV004757811 likely benign APC-related disorder 2019-11-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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