ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg)

gnomAD frequency: 0.00003  dbSNP: rs200501968
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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 RCV000802749 SCV000942592 likely benign Nemaline myopathy 2 2024-06-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261215 SCV002541871 uncertain significance not provided 2021-11-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000802749 SCV001456724 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004549878 SCV004788808 uncertain significance NEB-related disorder 2024-01-12 no assertion criteria provided clinical testing The NEB c.17129A>G variant is predicted to result in the amino acid substitution p.Lys5710Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0066% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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