ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.311A>T (p.Asp104Val)

dbSNP: rs1553162829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519990 SCV000619723 uncertain significance not provided 2017-08-07 criteria provided, single submitter clinical testing The D104V variant in the MMACHC gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D104V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D104V 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 across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D104V as a variant of uncertain significance.
Ambry Genetics RCV004948378 SCV005443577 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.311A>T (p.D104V) alteration is located in exon 3 (coding exon 3) of the MMACHC gene. This alteration results from a A to T substitution at nucleotide position 311, causing the aspartic acid (D) at amino acid position 104 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829506 SCV002089531 uncertain significance Cobalamin C disease 2020-10-21 no assertion criteria provided clinical testing

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