Submissions for variant NM_000203.5(IDUA):c.408C>T (p.Ala136=)

gnomAD frequency: 0.00081  dbSNP: rs138195998

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000887714	SCV001031289	likely benign	Mucopolysaccharidosis type 1	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000887714	SCV001315205	uncertain significance	Mucopolysaccharidosis type 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV003169234	SCV003871775	likely benign	Inborn genetic diseases	2022-12-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV003438559	SCV004147449	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	IDUA: BP4, BP7
Natera, Inc.	RCV000887714	SCV002075288	likely benign	Mucopolysaccharidosis type 1	2017-11-14	no assertion criteria provided	clinical testing