ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1372C>T (p.Arg458Cys)

gnomAD frequency: 0.00003  dbSNP: rs782340858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000924192 SCV001069700 likely benign Mucopolysaccharidosis, MPS-II 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382093 SCV002698026 uncertain significance Inborn genetic diseases 2018-09-15 criteria provided, single submitter clinical testing The p.R458C variant (also known as c.1372C>T), located in coding exon 9 of the IDS gene, results from a C to T substitution at nucleotide position 1372. The arginine at codon 458 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000924192 SCV001462902 likely benign Mucopolysaccharidosis, MPS-II 2020-09-16 no assertion criteria provided clinical testing

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