ClinVar Miner

Submissions for variant NM_001304718.2(PTEN):c.-667_-666del (rs587776671)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521459 SCV000619429 pathogenic not provided 2018-08-16 criteria provided, single submitter clinical testing The c.39_40delAA variant in the PTEN gene has not, to our knowledge, been published in the literature as a germline variant; however, it has been reported as a somatic variant (Wei et al., 2015; Wong et al., 2015). This deletion causes a frameshift which changes an Arginine to a Glutamic Acid at codon 14, and creates a premature stop codon at position 29 of the new reading frame, denoted p.Arg14GlufsX29. This variant is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The c.39_40delAA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on currently available evidence, we consider c.39_40delAA to be pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000521459 SCV000692001 likely pathogenic not provided no assertion criteria provided clinical testing

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