ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) (rs149824485)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236700 SCV000294162 uncertain significance not provided 2017-10-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the IGHMBP2 gene. The R946Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R946Q variant is observed in 159/126,180 (0.1%) alleles from individuals of European background (Lek et al., 2016). The R946Q variant is a semi-conservative amino acidsubstitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000292250 SCV000373811 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000556244 SCV000642353 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2019-12-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000236700 SCV001144479 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000236700 SCV001148364 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173347 SCV001336435 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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