ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) (rs746206847)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677562 SCV000803075 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Very low frequency in ExAC (PM2)
Invitae RCV000677562 SCV001225796 pathogenic Mucopolysaccharidosis type 6 2019-11-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 144 of the ARSB protein (p.Gly144Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs746206847, ExAC 0.02%). This variant has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 8116615, 30982216, 16435196, 26909334). ClinVar contains an entry for this variant (Variation ID: 559783). This variant has been reported to affect ARSB protein function (PMID: 8116615). 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. For these reasons, this variant has been classified as Pathogenic.

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