ClinVar Miner

Submissions for variant NM_001101362.2(KBTBD13):c.170del (p.Gly57fs) (rs1555407559)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639951 SCV000761537 uncertain significance Nemaline myopathy 6 2017-10-17 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the KBTBD13 gene (p.Gly57Valfs*104). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 402 amino acids of the KBTBD13 protein. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with KBTBD13-related disease. A missense variant downstream of this premature truncation (p.Arg408Cys) has been determined to be pathogenic (PMID: 21109227). This suggests that the p.Arg408 residue is critical for KBTBD13 protein function and that other variants resulting in truncation and/or disruption of this position may also be pathogenic. 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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