ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.723dup (p.Glu242Ter) (rs1060500115)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457162 SCV000541595 pathogenic PTEN hamartoma tumor syndrome 2019-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu242*) in the PTEN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of PTEN hamartoma tumor syndrome (PMID: 16952599, 29510612). ClinVar contains an entry for this variant (Variation ID: 404149). Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000491549 SCV000579974 pathogenic Hereditary cancer-predisposing syndrome 2018-07-16 criteria provided, single submitter clinical testing The c.723dupT pathogenic mutation, located in coding exon 7 of the PTEN gene, results from a duplication of T at nucleotide position 723, causing a translational frameshift with a predicted alternate stop codon (p.E242*). This mutation was reported as de novo in a patient with a clinical diagnosis of Bannayan-Riley-Ruvalcaba syndrome (BRRS), with features including macrocephaly, axillary lipoma, and thyroid multinodular goiter (Buisson P et al. J Pediatr Surg. 2006;41(9):1601-3). This mutation has also been reported in a patient diagnosed with simultaneous breast cancer, dermatofibrosarcoma protuberans, and follicular thyroid cancer at age 29 who was also found to have multiple gastrointestinal polyps (Won HS et al. Cancer Res Treat, 2018 Feb;:). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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