ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.738C>T (p.Ser246=)

gnomAD frequency: 0.00002  dbSNP: rs368667384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087620 SCV000653512 likely benign Cowden syndrome 6 2023-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384234 SCV002673931 likely benign Inborn genetic diseases 2022-04-26 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.

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