ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6664A>G (p.Met2222Val)

gnomAD frequency: 0.00001  dbSNP: rs201167928
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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 RCV002002041 SCV002207733 likely benign Nemaline myopathy 2 2023-08-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134270 SCV003813552 uncertain significance not provided 2019-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042951 SCV004979525 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.6664A>G (p.M2222V) alteration is located in exon 50 (coding exon 48) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 6664, causing the methionine (M) at amino acid position 2222 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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