ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.525C>T (p.Ala175=)

gnomAD frequency: 0.00058  dbSNP: rs144196914
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727347 SCV000707765 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing
GeneDx RCV000591166 SCV000716424 likely benign not specified 2017-03-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001088507 SCV001058091 likely benign Hereditary fructosuria 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727347 SCV004184811 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ALDOB: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003962717 SCV004780939 likely benign ALDOB-related condition 2021-07-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001088507 SCV001461174 likely benign Hereditary fructosuria 2020-04-14 no assertion criteria provided clinical testing

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.