ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro)

dbSNP: rs1735692451
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001309196 SCV001498686 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2020-10-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SDHA protein function. This variant has not been reported in the literature in individuals with SDHA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with proline at codon 377 of the SDHA protein (p.Ala377Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline.

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.