ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.472delinsAT (p.Val158fs)

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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 RCV004525228 SCV005034476 pathogenic Hereditary cancer-predisposing syndrome 2023-09-22 criteria provided, single submitter clinical testing The c.472delGinsAT pathogenic mutation, located in coding exon 5 of the PTEN gene, results from the deletion of one nucleotide and insertion of two nucleotides causing a translational frameshift with a predicted alternate stop codon (p.V158Ifs*22). 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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