ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met)

gnomAD frequency: 0.00001  dbSNP: rs780157705
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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 RCV001323603 SCV001514526 likely benign Nemaline myopathy 2 2023-10-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001323603 SCV002077058 uncertain significance Nemaline myopathy 2 2020-02-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004548165 SCV004773482 uncertain significance NEB-related disorder 2023-11-22 no assertion criteria provided clinical testing The NEB c.11982C>G variant is predicted to result in the amino acid substitution p.Ile3994Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino 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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