ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.494-2A>G

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002848255 SCV003235754 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-12-05 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 of the HGSNAT gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Mucopolysaccharidosis type III (PMID: 31228227). ClinVar contains an entry for this variant (Variation ID: 2029865). Studies have shown that disruption of this splice site is associated with altered splicing resulting in multiple RNA products (PMID: 31228227). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002848255 SCV005675482 likely pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-04-10 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.