ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4854A>G (p.Leu1618=)

dbSNP: rs377666490
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533332 SCV001652331 likely benign Familial adenomatous polyposis 1 2021-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334157 SCV002635980 likely benign Hereditary cancer-predisposing syndrome 2021-09-27 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. RCV002533332 SCV004932419 benign Familial adenomatous polyposis 1 2024-03-28 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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