Submissions for variant NM_002180.2(IGHMBP2):c.2295C>G (p.His765Gln) (rs149185954)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000545267	SCV000642335	uncertain significance	Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S	2019-10-02	criteria provided, single submitter	clinical testing	This sequence change replaces histidine with glutamine at codon 765 of the IGHMBP2 protein (p.His765Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs149185954, ExAC 0.005%). 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: "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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