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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