ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.591_614delinsTA (p.Lys197fs)

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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 RCV002355754 SCV002652598 pathogenic Hereditary cancer-predisposing syndrome 2020-03-17 criteria provided, single submitter clinical testing The c.591_614del24insTA pathogenic mutation, located in coding exon 6 of the PTEN gene, results from the deletion of 24 nucleotides and insertion of two nucleotides (TA) causing a translational frameshift with a predicted alternate stop codon (p.K197Nfs*17). 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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