ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2020C>A (p.Arg674Ser)

dbSNP: rs150058137
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001877541 SCV002142650 uncertain significance Methylcobalamin deficiency type cblG 2023-08-04 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with cblG deficiency (PMID: 25526710). 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. 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 expected to disrupt MTR protein function. ClinVar contains an entry for this variant (Variation ID: 1373885). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 674 of the MTR protein (p.Arg674Ser).

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