ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln)

gnomAD frequency: 0.00026  dbSNP: rs147038490
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235815 SCV000292591 uncertain significance not provided 2024-12-19 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000547188 SCV000642338 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-12-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000235815 SCV001148363 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001110520 SCV001267969 uncertain significance Autosomal recessive distal spinal muscular atrophy 1 2018-01-13 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000235815 SCV001472427 uncertain significance not provided 2019-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444933 SCV002735013 likely benign Inborn genetic diseases 2024-01-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000235815 SCV003813313 uncertain significance not provided 2019-07-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000235815 SCV005412399 uncertain significance not provided 2024-06-18 criteria provided, single submitter clinical testing BP4

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