Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224756 | SCV000281632 | pathogenic | not provided | 2017-10-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000557414 | SCV000642322 | uncertain significance | Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S | 2019-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 603 of the IGHMBP2 protein (p.Arg603His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs151079750, ExAC 0.001%). This variant has been reported in an individual affected with spinal muscular atrophy and respiratory distress, type 1 (PMID: 14681881). ClinVar contains an entry for this variant (Variation ID: 235774). Experimental studies have shown that this missense change impairs the helicase and ATPase activities of the IGHMBP2 protein, as well as impairs its ability to bind to nucleic acids (PMID: 19158098). 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. |
Molecular Genetics Laboratory, |
RCV001173328 | SCV001336416 | likely pathogenic | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Inherited Neuropathy Consortium | RCV000790280 | SCV000929684 | uncertain significance | Distal spinal muscular atrophy | no assertion criteria provided | literature only |