ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.892del (p.Gln298fs)

dbSNP: rs786204884
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169825 SCV000222145 pathogenic Hereditary cancer-predisposing syndrome 2014-05-14 criteria provided, single submitter clinical testing The c.892delC mutation in the PTEN gene causes a frameshift starting with codon Glutamine 298 changes this amino acid to a Lysine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Gln298LysfsX9. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in PTEN panel(s).

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