ClinVar Miner

Submissions for variant NM_001101362.2(KBTBD13):c.1042del (p.Ala348fs) (rs760102500)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686513 SCV000814034 uncertain significance Nemaline myopathy 6 2018-06-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the KBTBD13 gene (p.Ala348Profs*94). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acids of the KBTBD13 protein. This variant is present in population databases (rs760102500, ExAC 0.003%). This variant has not been reported in the literature in individuals with KBTBD13-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KBTBD13 cause disease. 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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