ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.480C>A (p.Thr160=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002337931 SCV002639602 likely benign Hereditary cancer-predisposing syndrome 2020-11-25 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.
Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca RCV003483890 SCV004231954 uncertain significance Prostate cancer, hereditary, 1 2024-01-01 no assertion criteria provided clinical testing

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