Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674997 | SCV000800420 | likely pathogenic | Cobalamin C disease | 2018-06-07 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000674997 | SCV001135278 | pathogenic | Cobalamin C disease | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674997 | SCV001206381 | pathogenic | Cobalamin C disease | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 189 of the MMACHC protein (p.Arg189Ser). This variant is present in population databases (rs200895671, gnomAD 0.006%). This missense change has been observed in individual(s) with methylmalonic aciduria and homocystinuria, cblC type (PMID: 16311595, 18164228, 18245139, 19760748, 24599607, 29294253). ClinVar contains an entry for this variant (Variation ID: 558690). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MMACHC protein function. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000674997 | SCV002800376 | pathogenic | Cobalamin C disease | 2021-07-16 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000674997 | SCV003806928 | pathogenic | Cobalamin C disease | 2022-11-11 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS3 supporting, PM2 moderated, PM3 very strong, PP3 supporting |
Genome- |
RCV000674997 | SCV004178198 | likely pathogenic | Cobalamin C disease | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000674997 | SCV004193189 | pathogenic | Cobalamin C disease | 2023-06-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273232 | SCV001456024 | pathogenic | Methylmalonic acidemia with homocystinuria cblC | 2020-09-16 | no assertion criteria provided | clinical testing |