ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)

gnomAD frequency: 0.00261  dbSNP: rs80207011
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130407 SCV000185269 benign Hereditary cancer-predisposing syndrome 2018-10-17 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000228248 SCV000288113 benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-31 criteria provided, single submitter clinical testing
Counsyl RCV000410621 SCV000487821 likely benign Paragangliomas 5 2015-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001704054 SCV000730679 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818312 SCV002069741 benign not specified 2021-04-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000130407 SCV002527717 benign Hereditary cancer-predisposing syndrome 2020-02-26 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001818312 SCV002773965 benign not specified 2021-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000410621 SCV004045355 uncertain significance Paragangliomas 5 2023-04-24 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
PreventionGenetics, part of Exact Sciences RCV004532558 SCV004740150 benign SDHA-related disorder 2019-09-09 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.