ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs) (rs864309481)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599026 SCV000709945 pathogenic not provided 2018-08-14 criteria provided, single submitter clinical testing The c.731_734delTAAC variant in the SLC2A10 gene has been reported previously, using alternate nomenclature as c.730_733delCTAA, in trans with a second SLC2A10 variant in a male child with arterial tortuosity syndrome (Callewaert et al., 2008). This variant causes a frameshift starting with codon Leucine 244, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Leu244GlnfsX35. The c.731_734delTAAC variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.731_734delTAAC as a pathogenic variant.
GeneReviews RCV000202501 SCV000195662 pathogenic Arterial tortuosity syndrome 2014-09-10 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.