ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237313 SCV001410069 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2019-10-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 196 of the IGHMBP2 protein (p.Gln196His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IGHMBP2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). This variant disrupts the p.Gln196 amino acid residue in IGHMBP2. Other variant(s) that disrupt this residue have been observed in individuals with IGHMBP2-related conditions (PMID: 15108294), which suggests that this may be a clinically significant amino acid residue. 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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