ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.786_787insCT (p.Lys263fs)

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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 RCV002412234 SCV002670077 pathogenic Hereditary cancer-predisposing syndrome 2022-05-24 criteria provided, single submitter clinical testing The c.786_787insCT pathogenic mutation, located in coding exon 7 of the PTEN gene, results from an insertion of two nucleotides at position 786, causing a translational frameshift with a predicted alternate stop codon (p.K263Lfs*4). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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