ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.161dup (p.Arg55fs)

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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 RCV002401044 SCV002705381 pathogenic Hereditary cancer-predisposing syndrome 2018-11-16 criteria provided, single submitter clinical testing The c.161dupT pathogenic mutation, located in coding exon 2 of the PTEN gene, results from a duplication of T at nucleotide position 161, causing a translational frameshift with a predicted alternate stop codon (p.R55Kfs*8). 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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