ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp)

gnomAD frequency: 0.00040  dbSNP: rs144681826
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179404 SCV000231649 uncertain significance not provided 2014-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525446 SCV000642371 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000179404 SCV001813638 uncertain significance not provided 2024-06-29 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24388491, 25439726, 22965130)
Ambry Genetics RCV002426859 SCV002677143 uncertain significance Inborn genetic diseases 2023-01-03 criteria provided, single submitter clinical testing The c.832C>G (p.H278D) alteration is located in exon 6 (coding exon 6) of the IGHMBP2 gene. This alteration results from a C to G substitution at nucleotide position 832, causing the histidine (H) at amino acid position 278 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000179404 SCV003813328 uncertain significance not provided 2020-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000179404 SCV004226195 uncertain significance not provided 2022-04-22 criteria provided, single submitter clinical testing

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