Submissions for variant NM_000512.5(GALNS):c.775C>A (p.Arg259=)

gnomAD frequency: 0.00707  dbSNP: rs61742258

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000407278	SCV000342308	benign	not specified	2016-05-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001080719	SCV000399642	likely benign	Mucopolysaccharidosis, MPS-IV-A	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV001080719	SCV000754693	benign	Mucopolysaccharidosis, MPS-IV-A	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001080719	SCV002045061	benign	Mucopolysaccharidosis, MPS-IV-A	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000675538	SCV004041975	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	GALNS: BP4, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000675538	SCV000801229	likely benign	not provided	2017-06-07	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000675538	SCV001743366	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000675538	SCV001965344	likely benign	not provided		no assertion criteria provided	clinical testing