ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1054_1056GAG[1] (p.Glu353del) (rs878853931)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234468 SCV000284577 uncertain significance PTEN hamartoma tumor syndrome 2019-12-26 criteria provided, single submitter clinical testing This variant, c.1057_1059del, results in the deletion of 1 amino acid(s) of the PTEN protein (p.Glu353del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with a personal and/or family history of breast cancer (PMID: 30039884). This variant is also known as c.1054_1056del (p.352_352del) in the literature. ClinVar contains an entry for this variant (Variation ID: 237637). This variant has been reported not to substantially affect PTEN protein function (PMID: 29706350). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital RCV000656475 SCV000778345 uncertain significance Breast cancer, susceptibility to 2018-03-25 criteria provided, single submitter research

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