ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1121T>C (p.Ile374Thr) (rs1193634362)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000498252 SCV000590849 uncertain significance not specified 2017-01-05 criteria provided, single submitter clinical testing
Invitae RCV001244708 SCV001417950 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2019-10-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 374 of the IGHMBP2 protein (p.Ile374Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IGHMBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 433161). 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.
Genesis Genome Database RCV000856968 SCV000999533 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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