ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly)

dbSNP: rs768631087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001340338 SCV001534143 uncertain significance Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2022-03-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 62 of the IGHMBP2 protein (p.Arg62Gly). This variant is present in population databases (rs768631087, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with IGHMBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1037216). 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.
CeGaT Center for Human Genetics Tuebingen RCV001726488 SCV001961293 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002412067 SCV002717110 uncertain significance Inborn genetic diseases 2019-09-03 criteria provided, single submitter clinical testing The p.R62G variant (also known as c.184C>G), located in coding exon 2 of the IGHMBP2 gene, results from a C to G substitution at nucleotide position 184. The arginine at codon 62 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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