ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln)

gnomAD frequency: 0.00004  dbSNP: rs368642083
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001659104 SCV001875338 uncertain significance not provided 2024-08-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 RCV001832841 SCV002942651 benign Nemaline myopathy 2 2024-01-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001659104 SCV003811586 uncertain significance not provided 2023-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163783 SCV003880168 uncertain significance Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing The c.2921G>A (p.R974Q) alteration is located in exon 29 (coding exon 27) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 2921, causing the arginine (R) at amino acid position 974 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001832841 SCV002077767 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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