Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002706029 | SCV002995631 | uncertain significance | Methylcobalamin deficiency type cblE | 2022-08-21 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 557 of the MTRR protein (p.Gln557Arg). This variant is present in population databases (rs765859795, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MTRR-related conditions. 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 | RCV004958710 | SCV005445986 | uncertain significance | Inborn genetic diseases | 2024-11-14 | criteria provided, single submitter | clinical testing | The c.1670A>G (p.Q557R) alteration is located in exon 12 (coding exon 11) of the MTRR gene. This alteration results from a A to G substitution at nucleotide position 1670, causing the glutamine (Q) at amino acid position 557 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |