ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)

gnomAD frequency: 0.03631  dbSNP: rs73569592
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398564 SCV000474017 likely benign Mucopolysaccharidosis, MPS-III-C 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000534224 SCV000656047 benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2025-02-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000592259 SCV000700339 benign not specified 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000675865 SCV001886752 benign not provided 2018-07-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17033958, 21228398, 19823584, 20981092, 19479962, 20583299)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000592259 SCV002014885 likely benign not specified 2021-10-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675865 SCV005223507 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675865 SCV000801589 benign not provided 2017-09-21 no assertion criteria provided clinical testing
Natera, Inc. RCV000398564 SCV001460472 benign Mucopolysaccharidosis, MPS-III-C 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000675865 SCV001797490 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000592259 SCV001923003 benign not specified no assertion criteria provided clinical testing

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