Submissions for variant NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn) (rs779654686)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000642636	SCV000764323	uncertain significance	Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S	2017-12-27	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid with asparagine at codon 400 of the IGHMBP2 protein (p.Asp400Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs779654686, ExAC 0.002%). This variant has not been reported in the literature in individuals with IGHMBP2-related disease. 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: "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	RCV001027461	SCV001190029	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	research

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