ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.196A>T (p.Lys66Ter)

dbSNP: rs1554897271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000499834 SCV000590920 pathogenic Hereditary cancer 2017-06-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535628 SCV004111391 likely pathogenic PTEN-related disorder 2022-12-22 criteria provided, single submitter clinical testing The PTEN c.196A>T variant is predicted to result in premature protein termination (p.Lys66*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in PTEN are expected to be pathogenic and neighboring premature-termination variants have been reported in association with disease (see for example, p.Tyr65*, Tan. 2011 et al. PubMed ID: 21194675). Taken together, the c.196A>T (p.Lys66*) variant is interpreted as likely pathogenic.

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