Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000555947 | SCV000640289 | uncertain significance | Cobalamin C disease | 2021-08-12 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with valine at codon 217 of the MMACHC protein (p.Glu217Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is present in population databases (rs199641732, ExAC 0.02%). This missense change has been observed in individual(s) with MMACHC-related conditions (Invitae). 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: "Tolerated"; 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. |
Mayo Clinic Laboratories, |
RCV001508862 | SCV001715280 | uncertain significance | not provided | 2020-05-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000555947 | SCV002786886 | uncertain significance | Cobalamin C disease | 2024-06-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003258864 | SCV003944468 | uncertain significance | Inborn genetic diseases | 2023-04-26 | criteria provided, single submitter | clinical testing | The c.650A>T (p.E217V) alteration is located in exon 4 (coding exon 4) of the MMACHC gene. This alteration results from a A to T substitution at nucleotide position 650, causing the glutamic acid (E) at amino acid position 217 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV000555947 | SCV004178220 | uncertain significance | Cobalamin C disease | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000555947 | SCV002089555 | uncertain significance | Cobalamin C disease | 2018-04-21 | no assertion criteria provided | clinical testing |