ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1289A>G (p.His430Arg) (rs1171277553)

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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 RCV000677472 SCV000802980 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 RCV000677472 SCV001575981 likely pathogenic Mucopolysaccharidosis type 6 2020-09-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 430 of the ARSB protein (p.His430Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 17161971, 17458871). ClinVar contains an entry for this variant (Variation ID: 559698). This variant has been reported to affect ARSB protein function (PMID: 17161971). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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