ClinVar Miner

Submissions for variant NM_014749.5(KIAA0586):c.789dup (p.Gln264fs) (rs1203751352)

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 RCV000627560 SCV000748560 likely pathogenic not provided 2018-04-06 criteria provided, single submitter clinical testing A variant that is likely pathogenic has also been identified in the KIAA0586 gene. The c.948dupA variant in the KIAA0586 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.948dupA variant causes a frameshift starting with codon Glutamine 317, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Q317TfsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.948dupA variant is observed in 3/33448 (0.009%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Invitae RCV000697925 SCV000826559 pathogenic Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2017-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln317Thrfs*11) in the KIAA0586 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KIAA0586-related disease. Loss-of-function variants in KIAA0586 are known to be pathogenic (PMID: 26096313, 26166481). For these reasons, this variant has been classified as Pathogenic.

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.