Submissions for variant NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)

gnomAD frequency: 0.00596  dbSNP: rs151296605

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000314283	SCV000336713	benign	not specified	2015-11-06	criteria provided, single submitter	clinical testing
Invitae	RCV001087801	SCV000629965	benign	Mucopolysaccharidosis, MPS-IV-A	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001087801	SCV001277428	benign	Mucopolysaccharidosis, MPS-IV-A	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	RCV001087801	SCV001547967	likely benign	Mucopolysaccharidosis, MPS-IV-A	2021-02-01	criteria provided, single submitter	curation	In vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; PS3_supporting); allele frequency is greater than expected for disorder(BS1_strong); multiple lines of computational evidence suggest no impact on gene or gene product (BP4_supporting)
GeneDx	RCV000675526	SCV001837536	benign	not provided	2020-02-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25545067)
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001087801	SCV001984019	benign	Mucopolysaccharidosis, MPS-IV-A	2020-01-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001087801	SCV002045048	benign	Mucopolysaccharidosis, MPS-IV-A	2021-11-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001087801	SCV002800598	likely benign	Mucopolysaccharidosis, MPS-IV-A	2022-01-13	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675526	SCV000801217	uncertain significance	not provided	2017-03-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000314283	SCV001739916	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000675526	SCV001799953	likely benign	not provided		no assertion criteria provided	clinical testing