Submissions for variant NM_000035.4(ALDOB):c.250del (p.Leu84fs)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 3

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001192776	SCV001361105	likely pathogenic	Hereditary fructosuria	2019-08-05	criteria provided, single submitter	clinical testing	Variant summary: ALDOB c.250delC (p.Leu84SerfsX26) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251350 control chromosomes. c.250delC has been reported in the literature in at-least two individuals affected with Hereditary Fructose Intolerance (Gruchota_2006). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae	RCV001192776	SCV002234222	pathogenic	Hereditary fructosuria	2022-11-01	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 928611). This premature translational stop signal has been observed in individual(s) with hereditary fructose intolerance (PMID: 16406649). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu84Serfs*26) in the ALDOB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDOB are known to be pathogenic (PMID: 18541450).
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	RCV001192776	SCV001573865	likely pathogenic	Hereditary fructosuria	2021-03-18	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.