ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317549 SCV001508218 uncertain significance Beta-D-mannosidosis 2020-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys849Aspfs*16) in the MANBA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acid(s) of the MANBA protein. This variant is present in population databases (rs749997217, ExAC 0.06%). This variant has not been reported in the literature in individuals with MANBA-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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