ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser) (rs145945230)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000381031 SCV000373807 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000541754 SCV000642349 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 919 of the IGHMBP2 protein (p.Arg919Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs145945230, ExAC 0.01%). This variant has not been reported in the literature in individuals with an IGHMBP2-related disease. ClinVar contains an entry for this variant (Variation ID: 305861). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on IGHMBP2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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