Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000520604 | SCV000621913 | pathogenic | not provided | 2022-04-07 | criteria provided, single submitter | clinical testing | Reported as an autosomal recessive single heterozygous likely pathogenic variant in a proband undergoing whole exome sequencing in published literature, however the phenotype of this individual was not provided (Hou et al., 2020); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31980526) |
| Ce |
RCV000520604 | SCV001501889 | pathogenic | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | MME: PVS1, PM2 |
| Labcorp Genetics |
RCV000520604 | SCV002280404 | likely pathogenic | not provided | 2022-05-17 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MME-related conditions. This sequence change affects an acceptor splice site in intron 18 of the MME gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MME are known to be pathogenic (PMID: 26991897). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. ClinVar contains an entry for this variant (Variation ID: 453058). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Institute of Immunology and Genetics Kaiserslautern | RCV002290970 | SCV005042999 | likely pathogenic | Charcot-Marie-Tooth disease axonal type 2T | 2024-04-16 | criteria provided, single submitter | clinical testing | ACMG Criteria: PVS1_S, PM2, PP5; Variant was found in heterozygous state |
| Clinical Genetics Laboratory, |
RCV002290970 | SCV002583424 | likely pathogenic | Charcot-Marie-Tooth disease axonal type 2T | 2022-04-05 | no assertion criteria provided | clinical testing |