ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)

gnomAD frequency: 0.00001  dbSNP: rs780981680
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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 RCV001899154 SCV002171594 uncertain significance Cobalamin C disease 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 5 of the MMACHC protein (p.Val5Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is present in population databases (rs780981680, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with MMACHC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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