ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.289C>A (p.Gln97Lys)

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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 RCV002291069 SCV002578246 pathogenic Mucopolysaccharidosis type 6 2022-07-30 criteria provided, single submitter clinical testing A homozygous missense variation in exon 1 of the ARSB gene that results in the amino acid substitution of Lysine for Glutamine at codon 97 was detected. The observed variant c.289C>A (p.Gln98Lys) has not been reported in the 1000 genomes and gnomAD databases. Alternative variant chr5:78280782 T⇒C (Gln97Arg) is classified Likely Pathogenic, 0 stars, by ClinVar (and confirmed using ACMG). The variant is present in UniProt protein ARSB_HUMAN metal ion binding domain. The in silico prediction of the variant are possibly damaging by Mutation Taster, LRT, MutPred, FATHMM-MKL, MVP and SIFT. The reference codon is conserved across species. Therefore, the variant meets our criteria to be classified as pathogenic based on absence from controls and in silico prediction models.

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