ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)

gnomAD frequency: 0.00001  dbSNP: rs751549678
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000754729 SCV000882616 likely pathogenic Autosomal recessive distal spinal muscular atrophy 1 2018-10-08 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173330 SCV001336418 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Mendelics RCV000754729 SCV002516573 pathogenic Autosomal recessive distal spinal muscular atrophy 1 2022-05-04 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000754729 SCV002579559 likely pathogenic Autosomal recessive distal spinal muscular atrophy 1 2022-09-05 criteria provided, single submitter clinical testing
Invitae RCV002533772 SCV002934769 uncertain significance Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2022-04-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 443 of the IGHMBP2 protein (p.Arg443Cys). This variant is present in population databases (rs751549678, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with IGHMBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 617575). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IGHMBP2 protein function. 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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