ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.74C>A (p.Pro25Gln)

gnomAD frequency: 0.00001  dbSNP: rs576541936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733726 SCV001984555 uncertain significance Mucopolysaccharidosis type 6 2020-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001733726 SCV002187015 uncertain significance Mucopolysaccharidosis type 6 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces proline with glutamine at codon 25 of the ARSB protein (p.Pro25Gln). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and glutamine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with ARSB-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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