ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met)

gnomAD frequency: 0.00002  dbSNP: rs373649545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222951 SCV001395076 uncertain significance Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 439 of the IGHMBP2 protein (p.Thr439Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs373649545, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with IGHMBP2-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001509409 SCV001716103 uncertain significance not provided 2020-11-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001509409 SCV003813309 uncertain significance not provided 2019-05-30 criteria provided, single submitter clinical testing

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