ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) (rs749989641)

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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 RCV000677609 SCV000803126 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); Multiple lines of computational evidence support a deleterious effect on the gene product (PP3); Reputable source identifies as pathogenic (PP5)
Invitae RCV000677609 SCV001586724 pathogenic Mucopolysaccharidosis type 6 2020-08-25 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 313 of the ARSB protein (p.Pro313Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucolipidosis VI (PMID: 17458871, 17643332, 23557332). ClinVar contains an entry for this variant (Variation ID: 559826). This variant has been reported to affect ARSB protein function (PMID: 27826022). For these reasons, this variant has been classified as Pathogenic.

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