ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4413A>G (p.Ala1471=)

dbSNP: rs964029262
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445305 SCV000512076 likely benign not specified 2016-04-06 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000445305 SCV000600101 uncertain significance not specified 2017-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004022290 SCV000647514 likely benign Familial adenomatous polyposis 1 2025-02-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000584123 SCV000686974 likely benign Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584123 SCV001184186 likely benign Hereditary cancer-predisposing syndrome 2018-10-29 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.
Myriad Genetics, Inc. RCV004022290 SCV004932995 benign Familial adenomatous polyposis 1 2024-03-26 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.
All of Us Research Program, National Institutes of Health RCV004806289 SCV005428917 likely benign Classic or attenuated familial adenomatous polyposis 2024-07-20 criteria provided, single submitter clinical testing

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