ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6474C>A (p.Pro2158=)

dbSNP: rs772027192
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233890 SCV000282797 likely benign Familial adenomatous polyposis 1 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001284247 SCV000516106 likely benign not provided 2019-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565639 SCV000667342 likely benign Hereditary cancer-predisposing syndrome 2015-08-03 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 RCV000565639 SCV000687083 likely benign Hereditary cancer-predisposing syndrome 2017-09-14 criteria provided, single submitter clinical testing
Counsyl RCV000233890 SCV000785027 likely benign Familial adenomatous polyposis 1 2017-03-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284247 SCV001469926 likely benign not provided 2020-07-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565639 SCV002528708 likely benign Hereditary cancer-predisposing syndrome 2021-04-07 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000233890 SCV004019066 benign Familial adenomatous polyposis 1 2023-02-15 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 RCV003998681 SCV004840354 likely benign Classic or attenuated familial adenomatous polyposis 2024-01-11 criteria provided, single submitter clinical testing

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