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 C15"). 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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