ClinVar Miner

Submissions for variant NM_000038.6(APC):c.171T>C (p.Asp57=)

gnomAD frequency: 0.00002  dbSNP: rs770894012
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002517381 SCV000261169 likely benign Familial adenomatous polyposis 1 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000443847 SCV000512058 likely benign not specified 2016-08-16 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 RCV000567696 SCV000667314 likely benign Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000567696 SCV000686850 likely benign Hereditary cancer-predisposing syndrome 2017-08-10 criteria provided, single submitter clinical testing

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