Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Raymond Lab, |
RCV000850205 | SCV000897743 | likely pathogenic | Intellectual disability | 2019-02-13 | criteria provided, single submitter | research | |
Labcorp Genetics |
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, |
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, |
RCV001003576 | SCV001161953 | pathogenic | Microcephaly; Sparse hair; Movement disorder | no assertion criteria provided | research | ||
NIHR Bioresource Rare Diseases, |
RCV001003577 | SCV001161954 | pathogenic | Microcephaly; Sparse hair; Intellectual disability, severe; Movement disorder | no assertion criteria provided | research |