ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) (rs151079750)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 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,London Health Sciences Centre 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

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