ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.569_572dup (p.Ala192fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002347477 SCV002653330 pathogenic Hereditary cancer-predisposing syndrome 2022-03-21 criteria provided, single submitter clinical testing The c.569_572dupCAGT pathogenic mutation, located in coding exon 6 of the PTEN gene, results from a duplication of CAGT at nucleotide position 569, causing a translational frameshift with a predicted alternate stop codon (p.A192Sfs*11). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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