Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000653711 | SCV000775597 | uncertain significance | Brown-Vialetto-van Laere syndrome 1 | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 45 of the SLC52A3 protein (p.Thr45Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs776065357, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with SLC52A3-related conditions. 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: "Deleterious"; PolyPhen-2: "Possibly 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. |
| Ambry Genetics | RCV002534202 | SCV003698550 | uncertain significance | Inborn genetic diseases | 2022-05-26 | criteria provided, single submitter | clinical testing | The c.134C>T (p.T45M) alteration is located in exon 2 (coding exon 1) of the SLC52A3 gene. This alteration results from a C to T substitution at nucleotide position 134, causing the threonine (T) at amino acid position 45 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |