ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.692C>G (p.Pro231Arg)

dbSNP: rs2089450305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001291748 SCV001480191 likely pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001291748 SCV001593119 pathogenic Mucopolysaccharidosis, MPS-II 2021-03-18 criteria provided, single submitter clinical testing A hemizygous missense variation in exon 5 of the IDS gene that results in the amino acid substitution of Arginine for Proline at codon 231 was detected. The observed variant c.692C>G (p.Pro231Arg) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by PROVEAN, SIFT, MutPred and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.
Genome-Nilou Lab RCV001291748 SCV002014476 likely pathogenic Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing

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