ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) (rs1057518943)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415346 SCV000492989 likely pathogenic Hammertoe; Difficulty walking; Inability to walk; Progressive muscle weakness; Lower limb muscle weakness 2014-06-19 criteria provided, single submitter clinical testing
Invitae RCV000702154 SCV000830995 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 61 of the IGHMBP2 protein (p.Gly61Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with IGHMBP2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 374170). 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.
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000754728 SCV000882615 likely pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1 2018-10-08 criteria provided, single submitter clinical testing

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