ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly)

dbSNP: rs199641732
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000732513 SCV000574135 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing The E217G variant in the MMACHC gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E217G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E217G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E217G as a variant of uncertain significance.
Eurofins Ntd Llc (ga) RCV000732513 SCV000860479 uncertain significance not provided 2018-03-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001834577 SCV004178221 uncertain significance Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000732513 SCV005186678 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001834577 SCV002089554 uncertain significance Cobalamin C disease 2020-08-03 no assertion criteria provided clinical testing

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