ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.97C>T (p.Arg33Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005174409 SCV005803947 uncertain significance Nemaline myopathy 6 2024-09-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg33*) in the KBTBD13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 426 amino acid(s) of the KBTBD13 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KBTBD13-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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