ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.1030A>T (p.Lys344Ter)

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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 RCV002383648 SCV002701197 pathogenic Hereditary cancer-predisposing syndrome 2019-01-09 criteria provided, single submitter clinical testing The p.K344* pathogenic mutation (also known as c.1030A>T), located in coding exon 9 of the PTEN gene, results from an A to T substitution at nucleotide position 1030. This changes the amino acid from a lysine to a stop codon within coding exon 9. 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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