ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1857T>C (p.Thr619=)

dbSNP: rs1554083170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566970 SCV000667503 likely benign Hereditary cancer-predisposing syndrome 2016-02-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV004561661 SCV000768347 likely benign Familial adenomatous polyposis 1 2024-05-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000566970 SCV002053059 likely benign Hereditary cancer-predisposing syndrome 2016-05-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004561661 SCV004932950 benign Familial adenomatous polyposis 1 2024-03-07 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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