ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)

dbSNP: rs1858584931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173348 SCV001336436 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002559661 SCV003308056 uncertain significance Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2022-03-26 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth Disease (PMID: 32376792). 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. 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. ClinVar contains an entry for this variant (Variation ID: 917017). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 243 of the IGHMBP2 protein (p.Pro243Arg).

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