ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2032G>T (p.Ala678Ser)

gnomAD frequency: 0.00001  dbSNP: rs759130222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758360 SCV001996903 uncertain significance not provided 2019-11-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868469 SCV002158118 uncertain significance Methylcobalamin deficiency type cblG 2024-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 678 of the MTR protein (p.Ala678Ser). This variant is present in population databases (rs759130222, gnomAD 0.01%). 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: 1310236). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MTR protein function with a negative predictive value of 95%. 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.
Revvity Omics, Revvity RCV001868469 SCV003811474 uncertain significance Methylcobalamin deficiency type cblG 2021-12-14 criteria provided, single submitter clinical testing

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