Submissions for variant NM_000512.5(GALNS):c.240G>A (p.Ser80=)

gnomAD frequency: 0.01724  dbSNP: rs11865929

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000633467	SCV000399658	likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000633467	SCV000754696	benign	Mucopolysaccharidosis, MPS-IV-A	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001618562	SCV001847358	benign	not provided	2018-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000633467	SCV002045074	benign	Mucopolysaccharidosis, MPS-IV-A	2021-11-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001618562	SCV005219632	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003920369	SCV004731304	benign	GALNS-related disorder	2019-08-03	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).