ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.438del (p.Trp146fs)

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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 RCV003156409 SCV003845181 pathogenic Mucopolysaccharidosis type 6 2023-03-18 criteria provided, single submitter clinical testing A homozygous single base pair deletion in exon 2 of the ARSB gene that results in a frameshift and premature truncation of the protein 38 amino acids downstream to codon 146 (p.Trp146Cysfs*38) was detected. This variant has not been reported in the 1000 genomes and gnomAD databases. The in-silico prediction of the variant is damaging MutationTaster2. The reference region is conserved across species. In summary the variant meets our criteria to be classified as pathogenic.

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