ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222447 SCV001394545 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2019-07-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 594 of the IGHMBP2 protein (p.Asp594Ala). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is present in population databases (rs777841793, ExAC 0.001%). This variant has not been reported in the literature in individuals with IGHMBP2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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