ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2315A>G (p.Gln772Arg)

gnomAD frequency: 0.00004  dbSNP: rs750824195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001352530 SCV001547091 uncertain significance Methylcobalamin deficiency type cblG 2022-10-05 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 772 of the MTR protein (p.Gln772Arg). This variant is present in population databases (rs750824195, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with MTR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1047769). 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 not expected to disrupt MTR protein function. 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.
GeneDx RCV001762610 SCV001990987 uncertain significance not provided 2019-04-03 criteria provided, single submitter clinical testing In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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