ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.199del (p.Ile67fs)

dbSNP: rs1114167669
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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 RCV000491041 SCV000580050 pathogenic Hereditary cancer-predisposing syndrome 2020-11-18 criteria provided, single submitter clinical testing The c.199delA pathogenic mutation, located in coding exon 3 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 199, causing a translational frameshift with a predicted alternate stop codon (p.I67Yfs*32). 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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