Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000033239 | SCV002203918 | uncertain significance | Brown-Vialetto-van Laere syndrome 2 | 2021-07-02 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with Brown-Vialetto-Van Laere syndrome (PMID: 23243084). ClinVar contains an entry for this variant (Variation ID: 40232). 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 SLC52A2 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 419 of the SLC52A2 protein (p.Gly419Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. |
OMIM | RCV000033239 | SCV000057095 | pathogenic | Brown-Vialetto-van Laere syndrome 2 | 2013-02-01 | no assertion criteria provided | literature only | |
Gene |
RCV000033239 | SCV000246250 | not provided | Brown-Vialetto-van Laere syndrome 2 | no assertion provided | literature only |