ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) (rs112029032)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224674 SCV000280806 likely benign not provided 2015-10-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507277 SCV000603957 likely benign not specified 2019-02-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224674 SCV000609303 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000507277 SCV000854858 benign not specified 2017-09-26 criteria provided, single submitter clinical testing
Invitae RCV001082167 SCV001122659 benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000190845 SCV001137619 likely benign Mucopolysaccharidosis, MPS-III-C 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000504631 SCV001240010 uncertain significance Retinal dystrophy 2019-08-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000190845 SCV001326457 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.
OMIM RCV000190844 SCV000245714 pathogenic Retinitis pigmentosa 73 2015-07-01 no assertion criteria provided literature only
OMIM RCV000190845 SCV000245715 pathogenic Mucopolysaccharidosis, MPS-III-C 2015-07-01 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504631 SCV000599072 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003049 SCV001161106 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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