ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4416A>T (p.Val1472=)

gnomAD frequency: 0.00004  dbSNP: rs773352404
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166366 SCV000217155 likely benign Hereditary cancer-predisposing syndrome 2014-11-06 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.
Counsyl RCV000412160 SCV000488395 likely benign Familial adenomatous polyposis 1 2016-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000412160 SCV000562673 likely benign Familial adenomatous polyposis 1 2025-01-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166366 SCV000681664 likely benign Hereditary cancer-predisposing syndrome 2016-12-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588465 SCV000694053 likely benign not specified 2019-08-20 criteria provided, single submitter clinical testing
GeneDx RCV001706086 SCV001912828 benign not provided 2015-05-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000166366 SCV002534250 likely benign Hereditary cancer-predisposing syndrome 2020-11-11 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000412160 SCV004017947 benign Familial adenomatous polyposis 1 2023-02-16 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001706086 SCV004219412 likely benign not provided 2023-02-06 criteria provided, single submitter clinical testing

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