ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)

gnomAD frequency: 0.00002  dbSNP: rs375876694
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
Raymond Lab, University of Cambridge RCV000850205 SCV000897743 likely pathogenic Intellectual disability 2019-02-13 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001869051 SCV002203097 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 173 of the BCS1L protein (p.Gly173Asp). This variant is present in population databases (rs375876694, gnomAD 0.004%). This missense change has been observed in individual(s) with intellectual disability (PMID: 31316545). ClinVar contains an entry for this variant (Variation ID: 625208). 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 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.
Baylor Genetics RCV003472288 SCV004210804 likely pathogenic Pili torti-deafness syndrome 2023-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021153 SCV005647685 likely pathogenic Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 2024-02-22 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003576 SCV001161953 pathogenic Microcephaly; Sparse hair; Movement disorder no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003577 SCV001161954 pathogenic Microcephaly; Sparse hair; Intellectual disability, severe; Movement disorder no assertion criteria provided research

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.