ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.127dup (p.Glu43fs)

dbSNP: rs1554893810
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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 RCV000573679 SCV000666980 pathogenic Hereditary cancer-predisposing syndrome 2016-12-09 criteria provided, single submitter clinical testing The c.127dupG pathogenic mutation, located in coding exon 2 of the PTEN gene, results from a duplication of G at nucleotide position 127, causing a translational frameshift with a predicted alternate stop codon (p.E43Gfs*9). 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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