ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.564T>G (p.Tyr188Ter)

dbSNP: rs606231170
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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 RCV001024369 SCV001186370 pathogenic Hereditary cancer-predisposing syndrome 2017-12-18 criteria provided, single submitter clinical testing The p.Y188* pathogenic mutation (also known as c.564T>G), located in coding exon 6 of the PTEN gene, results from a T to G substitution at nucleotide position 564. 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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