ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.18dup (p.Glu7fs)

dbSNP: rs121913290
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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 RCV000568098 SCV000663584 pathogenic Hereditary cancer-predisposing syndrome 2016-11-25 criteria provided, single submitter clinical testing The c.18dupA pathogenic mutation, located in coding exon 1 of the PTEN gene, results from a duplication of A at nucleotide position 18, causing a translational frameshift with a predicted alternate stop codon. 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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