ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.757dup (p.Ile253fs)

dbSNP: rs1114167661
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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 RCV000491921 SCV000580038 pathogenic Hereditary cancer-predisposing syndrome 2014-06-09 criteria provided, single submitter clinical testing The c.757dupA pathogenic mutation, located in coding exon 7 of the PTEN gene, results from a duplication of A at position 757, causing a translational frameshift with a predicted alternate stop codon. This mutation was identified in an individual who had PTEN clinical testing due to clinical suspicion of PTEN hamartoma tumor syndrome (PHTS) (Pilarski, R et al. J Med Genet. 2011 Aug;48(8):505-12). In addition to the clinical data presented in the literature, 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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