ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.858C>G (p.Thr286=)

gnomAD frequency: 0.00001  dbSNP: rs876660443
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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 RCV000218687 SCV000277870 likely benign Hereditary cancer-predisposing syndrome 2015-08-14 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 RCV000939327 SCV001085169 likely benign PTEN hamartoma tumor syndrome 2024-06-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001731451 SCV001983453 likely benign not specified 2021-09-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000939327 SCV004825990 likely benign PTEN hamartoma tumor syndrome 2024-06-09 criteria provided, single submitter clinical testing

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