ClinVar Miner

Submissions for variant NM_000314.4(PTEN):c.-868G>C (rs587782133)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130678 SCV000185564 uncertain significance Hereditary cancer-predisposing syndrome 2014-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763682 SCV000894562 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 RCV000588328 SCV000222214 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing This variant is denoted PTEN c.-869G>C, and describes a nucleotide substitution 869 base pairs upstream of the ATG translational start site in the PTEN core promoter region. The surrounding sequence, with the base that is substituted in brackets, is GCTC[G/C]GCGC. This variant, also called PTEN c.-868G>C using alternate numbering, has not been published in the literature to our knowledge. Variants within the PTEN promoter have been observed in individuals with features of Cowden syndrome (Zhou 2003). At this time, we consider this to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000588328 SCV000696543 uncertain significance not provided 2016-02-08 criteria provided, single submitter clinical testing

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