Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000191958 | SCV002313343 | uncertain significance | Brown-Vialetto-van Laere syndrome 1 | 2021-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 54 of the SLC52A3 protein (p.Gly54Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Brown-Vialetto-Van Laere syndrome (PMID: 22740598). ClinVar contains an entry for this variant (Variation ID: 210013). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Gene |
RCV000191958 | SCV000246210 | not provided | Brown-Vialetto-van Laere syndrome 1 | no assertion provided | literature only |