ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1443G>A (p.Val481=)

gnomAD frequency: 0.00006  dbSNP: rs146179851
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003765328 SCV000260356 likely benign Familial adenomatous polyposis 1 2024-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000440805 SCV000515738 benign not specified 2015-04-01 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.
Ambry Genetics RCV000569791 SCV000667446 likely benign Hereditary cancer-predisposing syndrome 2015-10-21 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.
Color Diagnostics, LLC DBA Color Health RCV000569791 SCV000681462 likely benign Hereditary cancer-predisposing syndrome 2016-08-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997609 SCV004837403 likely benign Classic or attenuated familial adenomatous polyposis 2023-11-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003765328 SCV004933001 benign Familial adenomatous polyposis 1 2024-03-01 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.

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