ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1161394470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641154 SCV000762777 uncertain significance Cobalamin C disease 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 149 of the MMACHC protein (p.Cys149Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Genome-Nilou Lab RCV000641154 SCV001805875 uncertain significance Cobalamin C disease 2021-07-14 criteria provided, single submitter clinical testing

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