ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2023A>G (p.Lys675Glu)

dbSNP: rs767593840
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001975524 SCV002247740 likely benign Nemaline myopathy 2 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002571300 SCV003720463 uncertain significance Inborn genetic diseases 2024-11-07 criteria provided, single submitter clinical testing The c.2023A>G (p.K675E) alteration is located in exon 22 (coding exon 20) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 2023, causing the lysine (K) at amino acid position 675 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003130645 SCV003810137 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing
GeneDx RCV003130645 SCV005332417 uncertain significance not provided 2023-05-25 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 as pathogenic or benign to our knowledge

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