ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002968146 SCV003288397 uncertain significance Cobalamin C disease 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 211 of the MMACHC protein (p.Pro211Thr). This variant is present in population databases (rs192924272, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MMACHC-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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MMACHC 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 RCV003108140 SCV003761791 uncertain significance not provided 2022-07-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV002968146 SCV004178216 uncertain significance Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003108140 SCV005412096 uncertain significance not provided 2024-05-03 criteria provided, single submitter clinical testing

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