ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1546C>T (p.Arg516Cys) (rs757425203)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174063 SCV000225298 uncertain significance not provided 2014-11-17 criteria provided, single submitter clinical testing
Invitae RCV000692765 SCV000820607 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2019-05-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 516 of the IGHMBP2 protein (p.Arg516Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs757425203, ExAC 0.02%). This variant has not been reported in the literature in individuals with IGHMBP2-related disease. ClinVar contains an entry for this variant (Variation ID: 193854). 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 C1). 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. 5

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