ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu)

gnomAD frequency: 0.00036  dbSNP: rs61731907
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330441 SCV000373780 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.
GeneDx RCV000479567 SCV000572958 uncertain significance not provided 2023-05-22 criteria provided, single submitter clinical testing Reported previously in the heterozygous state in a patient with Charcot-Marie-Tooth disease; however, further clinical and segregation information were not 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, 22965130, 25439726, 24388491)
Invitae RCV001086737 SCV000642305 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-01-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173336 SCV001336424 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000479567 SCV001716104 uncertain significance not provided 2020-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392842 SCV002697355 likely benign Inborn genetic diseases 2021-07-27 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 RCV000479567 SCV003813312 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing

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