ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.142A>G (p.Met48Val)

gnomAD frequency: 0.00001  dbSNP: rs755305281
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196925 SCV000251190 likely benign not specified 2013-05-20 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.
Mendelics RCV000987031 SCV001136213 benign GRACILE syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853169 SCV002265115 likely pathogenic not provided 2021-07-31 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 48 of the BCS1L protein (p.Met48Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs755305281, ExAC 0.003%). This missense change has been observed in individuals with mitochondrial complex III deficiency (PMID: 26563427). ClinVar contains an entry for this variant (Variation ID: 214157). 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 expected to disrupt BCS1L protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.