ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810623 SCV000950843 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 334 of the IGHMBP2 protein (p.Glu334Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in in the homozygous state in an individual affected with spinal muscular atrophy with respiratory distress (PMID: 14681881). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Inherited Neuropathy Consortium RCV000789977 SCV000929366 uncertain significance Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only

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