ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.296_297del (p.Glu99fs)

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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 RCV002441977 SCV002751522 pathogenic Hereditary cancer-predisposing syndrome 2022-02-11 criteria provided, single submitter clinical testing The c.296_297delAA pathogenic mutation, located in coding exon 5 of the PTEN gene, results from a deletion of two nucleotides at nucleotide positions 296 to 297, causing a translational frameshift with a predicted alternate stop codon (p.E99Afs*7). 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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