ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.563_572dup (p.Trp192_Gly193insTer) (rs752343321)

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Total submissions: 2
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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 RCV000001745 SCV001363586 pathogenic Beta-D-mannosidosis 2019-12-16 criteria provided, single submitter clinical testing Variant summary: MANBA c.563_572dup10 (p.Trp192X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 1.6e-05 in 251188 control chromosomes. c.563_572dup10 has been reported in the literature in an individual affected with Beta-Mannosidosis (Sedel_2006). A functional study, Sabourdy_2009, utilized a compound heterozygote patient, W192X/c.1705-1G>A to have significantly reduced enzyme activity, <10%. 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.
OMIM RCV000001745 SCV000021901 pathogenic Beta-D-mannosidosis 2006-01-01 no assertion criteria provided literature only

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