ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.949del (p.Thr317fs)

dbSNP: rs2140545202
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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 RCV001996277 SCV002277959 uncertain significance Nemaline myopathy 6 2021-05-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr317Profs*125) in the KBTBD13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 142 amino acid(s) of the KBTBD13 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KBTBD13-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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