ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1909C>T (p.Arg637Cys) (rs201563456)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001262002 SCV001439365 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1 2020-07-31 criteria provided, single submitter research ACMG codes:PM2, PP3
Invitae RCV001306272 SCV001495635 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-06-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 637 of the IGHMBP2 protein (p.Arg637Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs201563456, ExAC 0.01%). This variant has been observed in individual(s) with autosomal recessive spinal muscular atrophy with respiratory distress type 1 or Charcot-Marie-Tooth disease type 2 (PMID: 14681881, 15108294, 28065684). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 637910). 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.
Inherited Neuropathy Consortium RCV000790286 SCV000929690 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only

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