Submissions for variant NM_000202.8(IDS):c.575C>G (p.Pro192Arg)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002601334	SCV002951815	likely benign	Mucopolysaccharidosis, MPS-II	2024-08-07	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV002601334	SCV003834932	uncertain significance	Mucopolysaccharidosis, MPS-II	2021-03-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003226549	SCV003922569	uncertain significance	not specified	2023-03-29	criteria provided, single submitter	clinical testing	Variant summary: IDS c.575C>G (p.Pro192Arg) results in a non-conservative amino acid change located in the Sulfatase, N-terminal (IPR000917) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.7e-05 in 183401 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.575C>G in individuals affected with Mucopolysaccharidosis Type II (Hunter Syndrome) and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely benign, and one laboratory classified it as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.