Submissions for variant NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)

gnomAD frequency: 0.00002  dbSNP: rs774393243

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000735425	SCV001366262	uncertain significance	Mucopolysaccharidosis type 7	2020-03-25	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PM3_SUPP.
Baylor Genetics	RCV000735425	SCV001522959	pathogenic	Mucopolysaccharidosis type 7	2020-01-23	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000735425	SCV004800992	likely pathogenic	Mucopolysaccharidosis type 7	2024-02-11	criteria provided, single submitter	research
Fulgent Genetics, Fulgent Genetics	RCV000735425	SCV005674373	pathogenic	Mucopolysaccharidosis type 7	2024-03-11	criteria provided, single submitter	clinical testing
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000735425	SCV000854592	pathogenic	Mucopolysaccharidosis type 7	2018-12-03	no assertion criteria provided	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000735425	SCV001469236	pathogenic	Mucopolysaccharidosis type 7	2020-09-10	no assertion criteria provided	clinical testing