ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.994A>T (p.Lys332Ter)

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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 RCV003177754 SCV003864673 pathogenic Hereditary cancer-predisposing syndrome 2023-02-13 criteria provided, single submitter clinical testing The p.K332* pathogenic mutation (also known as c.994A>T), located in coding exon 8 of the PTEN gene, results from an A to T substitution at nucleotide position 994. This changes the amino acid from a lysine to a stop codon within coding exon 8. This alteration occurs at the 3' terminus of PTEN gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 72 amino acids of the protein. However, premature stop codons are typically deleterious in nature and a significant portion of the protein is affected (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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