ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.218G>A (p.Arg73Gln)

gnomAD frequency: 0.00004  dbSNP: rs727504037
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153556 SCV000203086 uncertain significance not provided 2014-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850100 SCV002167429 likely benign Nemaline myopathy 2 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649073 SCV005146299 uncertain significance Inborn genetic diseases 2024-05-14 criteria provided, single submitter clinical testing The c.218G>A (p.R73Q) alteration is located in exon 5 (coding exon 3) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 218, causing the arginine (R) at amino acid position 73 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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