ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.522T>A (p.Tyr174Ter)

dbSNP: rs786201867
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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 RCV000569509 SCV000674624 pathogenic Hereditary cancer-predisposing syndrome 2016-12-21 criteria provided, single submitter clinical testing The p.Y174* pathogenic mutation (also known as c.522T>A), located in coding exon 6 of the PTEN gene, results from a T to A substitution at nucleotide position 522. This changes the amino acid from a tyrosine to a stop codon within coding exon 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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