ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.795C>A (p.Asn265Lys)

dbSNP: rs1207417919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001970097 SCV002231469 pathogenic Mucopolysaccharidosis, MPS-II 2021-10-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asn265 amino acid residue in IDS. Other variant(s) that disrupt this residue have been observed in individuals with IDS-related conditions (PMID: 11452244), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with mucopolysaccharidosis type II (PMID: 22976768, 24125893, 24875751, 33676511; Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 265 of the IDS protein (p.Asn265Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001970097 SCV005089237 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only 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_Strong)

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