Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000382334 | SCV000357932 | uncertain significance | Disorders of Intracellular Cobalamin Metabolism | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Gene |
RCV001782782 | SCV000527610 | uncertain significance | not provided | 2021-11-19 | criteria provided, single submitter | clinical testing | Reported as a variant of uncertain significance in a compound heterozygous state with MMACHC p.(R153Q) in an unaffected infant with a false-positive newborn screen that showed elevated leucine (Wang et al. 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30612563) |
| Labcorp Genetics |
RCV000876964 | SCV001019615 | likely benign | Cobalamin C disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003967842 | SCV004779709 | likely benign | MMACHC-related disorder | 2023-03-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
| Natera, |
RCV001277247 | SCV001464154 | benign | Methylmalonic acidemia with homocystinuria cblC | 2020-05-03 | no assertion criteria provided | clinical testing |