ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2056G>A (p.Ala686Thr)

dbSNP: rs1859535898
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001346797 SCV001541023 uncertain significance Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2020-09-03 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with IGHMBP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 686 of the IGHMBP2 protein (p.Ala686Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.

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