ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.814_820dup (p.Ser274Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002291518 SCV002583500 pathogenic Mucopolysaccharidosis, MPS-III-B 2022-07-25 criteria provided, single submitter clinical testing A homozygous nonsense variation in exon 10 of the NAGLU gene that results in the amino acid. The observed variant c.814_820dup (p.Ser274Ter) has not been reported in the 1000 genomes and has a MAF of 0.007% in the gnomAD databases. The in silico prediction of the variant is by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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