Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000237019 | SCV000292900 | likely pathogenic | not provided | 2022-08-25 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24253200, 22864630, 32709422) |
Eurofins Ntd Llc |
RCV000237019 | SCV000344749 | likely pathogenic | not provided | 2016-08-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000191988 | SCV001229688 | pathogenic | Brown-Vialetto-van Laere syndrome 2 | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 420 of the SLC52A2 protein (p.Ala420Thr). This variant is present in population databases (rs368924997, gnomAD 0.006%). This missense change has been observed in individuals with Brown-Vialetto-Van Laere syndrome (PMID: 24253200; Invitae). ClinVar contains an entry for this variant (Variation ID: 210043). 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 SLC52A2 protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Laboratory of Medical Genetics, |
RCV000191988 | SCV001976825 | pathogenic | Brown-Vialetto-van Laere syndrome 2 | 2021-10-05 | criteria provided, single submitter | clinical testing | PM1, PM2, PP3, PP5 |
Gene |
RCV000191988 | SCV000246251 | not provided | Brown-Vialetto-van Laere syndrome 2 | no assertion provided | literature only |