Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554258 | SCV000655639 | uncertain significance | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U | 2023-12-04 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 122 of the MARS protein (p.Thr122Asn). This variant is present in population databases (rs201007223, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 475424). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
Seattle Children's Hospital Molecular Genetics Laboratory, |
RCV002245011 | SCV002512781 | uncertain significance | See cases | criteria provided, single submitter | clinical testing | This variant has been observed at low frequencies in the general population (3 of 251,478 alleles; gnomAD). To our knowledge, it has not been reported as pathogenic in the medical literature. | |
Revvity Omics, |
RCV003133353 | SCV003808277 | uncertain significance | not provided | 2021-06-02 | criteria provided, single submitter | clinical testing | |
Seattle Children's Hospital Molecular Genetics Laboratory, |
RCV003446155 | SCV004174067 | uncertain significance | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | no assertion criteria provided | clinical testing |