ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.993_994dup (p.Lys332fs)

dbSNP: rs1114167638
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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 RCV000491907 SCV000579995 pathogenic Hereditary cancer-predisposing syndrome 2015-11-20 criteria provided, single submitter clinical testing The c.993_994dupCA pathogenic mutation, located in coding exon 8 of the PTEN gene, results from a duplication of CA at nucleotide position 993, causing a translational frameshift with a predicted alternate stop codon (p.K332TFS*13). 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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