ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)

gnomAD frequency: 0.00006  dbSNP: rs201119402
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875362 SCV001017676 likely benign Nemaline myopathy 2 2024-07-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508089 SCV001714010 uncertain significance not provided 2020-11-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001508089 SCV003811614 likely benign not provided 2023-04-12 criteria provided, single submitter clinical testing
GeneDx RCV001508089 SCV004169156 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published in association with NEB-related nemaline myopathy to our knowledge; This variant is associated with the following publications: (PMID: 28719003, 26740555)
Ambry Genetics RCV005372477 SCV006039729 uncertain significance Inborn genetic diseases 2025-01-18 criteria provided, single submitter clinical testing The c.8063A>G (p.H2688R) alteration is located in exon 58 (coding exon 56) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 8063, causing the histidine (H) at amino acid position 2688 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000875362 SCV001457001 uncertain significance Nemaline myopathy 2 2020-01-10 no assertion criteria provided clinical testing

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