ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194223 SCV001363585 pathogenic Beta-D-mannosidosis 2019-08-05 criteria provided, single submitter clinical testing Variant summary: MANBA c.1398G>A (p.Trp466X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. A splice site variant downstream of this position has been classified as pathogenic by our laboratory (c.2158-2A>G). The variant allele was found at a frequency of 4e-06 in 251454 control chromosomes. c.1398G>A has been reported in the literature in at-least one individual affected with Beta-Mannosidosis (Gort_2006). At least one publication reports experimental evidence evaluating an impact on protein function (Gort_2006). The most pronounced variant effect results in <10% of normal activity. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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