ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17672A>C (p.Lys5891Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002966111 SCV003277425 likely benign Nemaline myopathy 2 2023-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548432 SCV004103515 uncertain significance NEB-related disorder 2022-09-22 criteria provided, single submitter clinical testing The NEB c.17672A>C variant is predicted to result in the amino acid substitution p.Lys5891Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-152424894-T-G). 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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