ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg)

gnomAD frequency: 0.00001  dbSNP: rs779682500
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000823295 SCV000964149 uncertain significance Charcot-Marie-Tooth disease type 2 2023-08-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 665085). 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 BSCL2 protein function. This missense change has been observed in individual(s) with clinical features of BSCL2-related conditions (Invitae). This variant is present in population databases (rs779682500, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 323 of the BSCL2 protein (p.Gln323Arg).
Fulgent Genetics, Fulgent Genetics RCV002487853 SCV002790320 uncertain significance Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 2024-06-25 criteria provided, single submitter 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.