ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)

dbSNP: rs2124648301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382697 SCV001581599 pathogenic Mucopolysaccharidosis, MPS-II 2021-07-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 521 of the IDS protein (p.Glu521Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type II (PMID: 9266380, 28543354, 11462244). Experimental studies have shown that this variant affects IDS protein function (PMID: 28543354). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001382697 SCV002014463 pathogenic Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001382697 SCV005089627 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only In vitro or in vivo functional studies supportive of a damaging effect (PS3_Moderate), Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Supporting), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Moderate)

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