ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)

dbSNP: rs1057520739
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435336 SCV000517249 pathogenic not provided 2015-05-27 criteria provided, single submitter clinical testing The T442M variant in the ARSB gene has been reported previously in the compound heterozygous statein an individual with mucopolysaccharidosis type VI (MPS VI) (Karageorgos et al., 2007). The T442Msubstitution was not observed in approximately 6500 individuals of European and African American ancestryin the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The T442M variant is a non-conservative amino acid substitution, which is likely to impact secondaryprotein structure as these residues differ in polarity, charge, size and/or other properties. This substitutionoccurs at a position that is conserved across species. Missense variants in the same (T442R) and nearby(K439E, P445L, and G446R) residues have been reported in the Human Gene Mutation Database inassociation with MPS VI (Stenson et al., 2014), supporting the functional importance of this region of theprotein. We interpret T442M as a pathogenic variant.
Eurofins NTD LLC (GA) RCV000435336 SCV000706443 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
Invitae RCV000632186 SCV000753291 pathogenic Mucopolysaccharidosis type 6 2021-08-26 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000632186 SCV000802983 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Absent from GnomAD (PM2)

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