ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln)

gnomAD frequency: 0.00002  dbSNP: rs772837483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214946 SCV001386655 likely benign Nemaline myopathy 2 2024-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033948 SCV004980672 uncertain significance Inborn genetic diseases 2023-10-14 criteria provided, single submitter clinical testing The c.8224G>C (p.E2742Q) alteration is located in exon 59 (coding exon 57) of the NEB gene. This alteration results from a G to C substitution at nucleotide position 8224, causing the glutamic acid (E) at amino acid position 2742 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001214946 SCV002079629 uncertain significance Nemaline myopathy 2 2020-03-17 no assertion criteria provided clinical testing

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