ClinVar Miner

Submissions for variant NM_001126049.2(KLLN):c.-828C>T

dbSNP: rs786203674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167085 SCV000217913 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-12 criteria provided, single submitter clinical testing The c.-1154G>A variant located in the 5' untranslated region (5’ UTR) of the PTEN gene. This variant results from a G to A substitution 1154 bases upstream from the first translated codon. This variant is located in the full promoter region of the PTEN gene; however, its potential impact on PTEN regulation has not yet been investigated (Zhou XP et al. Am J Hum Genet. 2003;73:404-411). This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000578861 SCV000680565 uncertain significance not provided 2017-05-22 criteria provided, single submitter clinical testing This variant is denoted PTEN c.-1155G>A, and describes a nucleotide substitution 1155 base pairsupstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the basethat is substituted in brackets, is AACC[G/A]GCCC. This variant, also called c.-1154G>A using alternate numbering,has not been published in the literature to our knowledge. Variants within the PTEN promoter have been observed inindividuals with features of Cowden syndrome (Zhou 2003). Based on currently available information, it is unclearwhether PTEN c.-1155G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV000763680 SCV000894560 uncertain significance Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1 2018-10-31 criteria provided, single submitter clinical testing

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