ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)

dbSNP: rs1570832855
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812705 SCV000953027 uncertain significance Cobalamin C disease 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 163 of the MMACHC protein (p.Val163Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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