Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000195983 | SCV000252273 | likely benign | not specified | 2014-07-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV002515434 | SCV002963182 | uncertain significance | not provided | 2022-08-07 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 93 of the SLC25A3 protein (p.Met93Ile). This variant is present in population databases (rs750003586, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SLC25A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 215162). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV000195983 | SCV004951642 | uncertain significance | not specified | 2023-10-14 | criteria provided, single submitter | clinical testing | The c.279G>T (p.M93I) alteration is located in exon 3 (coding exon 2) of the SLC25A3 gene. This alteration results from a G to T substitution at nucleotide position 279, causing the methionine (M) at amino acid position 93 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |