ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.942_949dup (p.Val317delinsAspIleTer)

dbSNP: rs1114167628
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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 RCV000491244 SCV000579979 pathogenic Hereditary cancer-predisposing syndrome 2014-04-07 criteria provided, single submitter clinical testing ​The c.942_949dupATATCTAG pathogenic mutation, located in coding exon 8 of the PTEN gene, results from a duplication of 8 nucleotides between positions 942 and 949, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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