ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.-834C>T (rs587779994)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115571 SCV000185191 uncertain significance Hereditary cancer-predisposing syndrome 2013-12-10 criteria provided, single submitter clinical testing
Counsyl RCV000662492 SCV000785004 uncertain significance Cowden syndrome 1 2017-03-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732321 SCV000860257 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763683 SCV000894563 uncertain significance Macrocephaly/autism syndrome; Meningioma, familial; Malignant tumor of prostate; VACTERL association with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000732321 SCV000149480 uncertain significance not provided 2018-07-30 criteria provided, single submitter clinical testing This variant is denoted PTEN c.-835C>T, and describes a nucleotide substitution 835 base pairs upstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the base that is substituted in brackets, is TCCT[C/T]TCGG. This variant, also denoted c.-834C>T using alternate numbering, has been reported previously in at least four patients reportedly meeting either a 'relaxed' or classic diagnostic criteria for Cowden syndrome per the International Cowden Consortium criteria (Teresi 2007, Ngeow 2011). However, functional studies did not identify any transcriptional or translational modifications affecting PTEN protein expression (Teresi 2007). Variants within the PTEN promoter have been observed in individuals with features of Cowden syndrome (Zhou 2003). Based on currently available evidence, it is unclear whether PTEN c.-835C>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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