ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)

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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 RCV002642207 SCV002962381 uncertain significance Methylcobalamin deficiency type cblG 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 941 of the MTR protein (p.Gln941Leu). This variant is present in population databases (rs761601954, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MTR-related conditions. 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.
Ambry Genetics RCV004065905 SCV005008086 uncertain significance Inborn genetic diseases 2021-03-26 criteria provided, single submitter clinical testing The c.2822A>T (p.Q941L) alteration is located in exon 27 (coding exon 27) of the MTR gene. This alteration results from a A to T substitution at nucleotide position 2822, causing the glutamine (Q) at amino acid position 941 to be replaced by a leucine (L). The p.Q941L alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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