Submissions for variant NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) (rs370985388)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000488186	SCV000574895	uncertain significance	not provided	2016-09-30	criteria provided, single submitter	clinical testing
Invitae	RCV000811896	SCV000952186	uncertain significance	Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S	2018-12-11	criteria provided, single submitter	clinical testing	This sequence change replaces lysine with glutamic acid at codon 957 of the IGHMBP2 protein (p.Lys957Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs370985388, ExAC 0.09%). This variant has not been reported in the literature in individuals with IGHMBP2-related disease. ClinVar contains an entry for this variant (Variation ID: 424987). 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: "Possibly 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.

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