ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.739G>T (p.Gly247Trp)

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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 RCV002291517 SCV002583501 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2022-08-08 criteria provided, single submitter clinical testing A homozygous missense variation in exon 4 of the NAGLU gene that results in the amino acid substitution of Tryptophan for Glycine at codon502 was detected. The observed variant c.739G>T (p.Gly247Trp) 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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