ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.938_939del (p.Lys313fs)

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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 RCV002373852 SCV002686385 pathogenic Hereditary cancer-predisposing syndrome 2020-06-15 criteria provided, single submitter clinical testing The c.938_939delAG pathogenic mutation, located in coding exon 8 of the PTEN gene, results from a deletion of two nucleotides at nucleotide positions 938 to 939, causing a translational frameshift with a predicted alternate stop codon (p.K313Rfs*11). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

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