ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)

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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 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.

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