ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.545G>A (p.Arg182Gln) (rs759103361)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001265535 SCV001443675 uncertain significance Beta-D-mannosidosis 2020-09-01 criteria provided, single submitter clinical testing The variant c.545G>A (p.Arg182Gln) in MANBA is reported with an estimated allele frequency of 0.00001193 in gnomAD exomes and 0.00003185 in gnomAD genomes, with no homozygous individuals reported. The nucleotide position is conserved across 35 mammalian species (GERP RS: 4.33). In silico analysis indicates that the variant might be damaging. Another pathogenic missense variant, (c.544C>T, p.Arg182Trp) affecting the same amino acid position, has been reported by Gort et al. (2006) in a 24-year-old Spanish woman with mild beta-mannosidosis, showing angiokeratoma corporis, slight deafness, and abdominal pain and no neurological involvement (PMID: 16904924). Based on ACMG variant interpretation guidelines, we classify this variant as uncertain. However, based on the aforementioned evidence, there is a given likelihood that the variant may actually be pathogenic, even if we cannot exclude that it is a rare benign variant.

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