ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001316971 SCV001507613 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-09-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 879 of the IGHMBP2 protein (p.Thr879Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs17612126, ExAC 0.03%). This variant has not been reported in the literature in individuals with IGHMBP2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IGHMBP2 protein function. 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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