ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.942_943AT[1] (p.Tyr315fs) (rs1064796128)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487015 SCV000572574 likely pathogenic not provided 2018-05-03 criteria provided, single submitter clinical testing A c.944_945delAT variant that is likely pathogenic has been identified in the PTEN gene. The c.944_945delAT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.944_945delAT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.944_945delAT pathogenic variant in the PTEN gene causes a frameshift starting with codon Tyrosine 315, changes this amino acid to a Serine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Tyr315SerfsX9. This variant is predicted to cause loss of normal protein function through protein truncation as the last 89 amino acids of the PTEN protein are replaced by 8 incorrect amino acids. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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