ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)

gnomAD frequency: 0.00108  dbSNP: rs149824485
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236700 SCV000294162 uncertain significance not provided 2022-11-28 criteria provided, single submitter clinical testing Reported in a single individual with CMT and classified as a variant of uncertain signficance by the authors; no information about patient phenotype or segregation was provided (Volodarsky et al., 2021); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32376792)
Illumina Laboratory Services, Illumina RCV000292250 SCV000373811 uncertain significance Autosomal recessive distal spinal muscular atrophy 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000556244 SCV000642353 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000236700 SCV001144479 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000236700 SCV001148364 uncertain significance not provided 2022-02-01 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
Ambry Genetics RCV002436064 SCV002748456 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.2837G>A (p.R946Q) alteration is located in exon 15 (coding exon 15) of the IGHMBP2 gene. This alteration results from a G to A substitution at nucleotide position 2837, causing the arginine (R) at amino acid position 946 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000236700 SCV003813316 uncertain significance not provided 2020-03-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000236700 SCV004226199 uncertain significance not provided 2022-10-31 criteria provided, single submitter clinical testing BP4

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