ClinVar Miner

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

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Total submissions: 3
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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
Inherited Neuropathy Consortium RCV000790280 SCV000929684 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only
Invitae RCV000557414 SCV000642322 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2017-12-28 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.

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