ClinVar Miner

Submissions for variant NM_001126049.1(KLLN):c.-736G>C (rs1554889801)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763678 SCV000894558 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 RCV000579252 SCV000680924 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing This variant is denoted PTEN c.-1247C>G, and describes a nucleotide substitution 1247 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 GTTT[C/G]TGGG. This variant, also called c.-1246C>G 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). Based on currently available information, it is unclear whether PTEN c.-1247C>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

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