ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.179del (p.Lys60fs)

dbSNP: rs1114167671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491534 SCV000580054 pathogenic Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing The c.179delA pathogenic mutation, located in coding exon 3 of the PTEN gene, results from a deletion of one nucleotide at position 179, causing a translational frameshift with a predicted alternate stop codon. This mutation has previously been reported as de novo in an individual diagnosed with Lhermitte-Duclos disease (LDD), and was subsequently detected in his son (Delatycki MB et al. J Med Genet. 2003 Aug;40(8):e92; Pilarski R and Eng C. J Med Genet. 2004 May;41(5):323-6). 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).
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258102 SCV001434948 pathogenic PTEN hamartoma tumor syndromes 2019-02-18 criteria provided, single submitter clinical testing The c.179delA (p.Lys60Serfs*39) variant in the PTEN gene is predicted to introduce a premature translation termination codon, which is predicted to result in nonsense-mediated mRNA decay. This variant is absent from large databases of genetic variation in the general population. This variant has been reported de novo in one family affected with Lhermitte-Duclos disease (PMID 12920084). Therefore, c.179delA (p.Lys60Serfs*39) variant in the PTEN gene is classified as pathogenic.

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