ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.482C>T (p.Ser161Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002291512 SCV002583304 uncertain significance Mucopolysaccharidosis, MPS-II 2022-07-02 criteria provided, single submitter clinical testing A Hemizygous missense variation in exon 4 of the IDS gene that results in the aminoacid substitution of Phenylalanine for Serine at codon 161 was detected.The observed variant c.482C>T(p.Ser161Phe) has not been reported in the 1000 genomes and gnomAD database. The in silico prediction of the variant are possibly damaging by and MutationTaster2. The reference codon is conserved across species.In summary, the variant meets our criteria to be classified as pathogenic.In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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