ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.780del (p.Lys260fs)

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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 RCV002409950 SCV002673071 pathogenic Hereditary cancer-predisposing syndrome 2020-02-25 criteria provided, single submitter clinical testing The c.780delA pathogenic mutation, located in coding exon 7 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 780, causing a translational frameshift with a predicted alternate stop codon (p.K260Nfs*6). 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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