ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.1021+1G>C

dbSNP: rs1486980139
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 RCV001851585 SCV002269460 pathogenic not provided 2022-10-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that disruption of this splice site results in skipping of exon 5 and introduces a new termination codon (PMID: 11470272). However the mRNA is not expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 2455). Disruption of this splice site has been observed in individual(s) with sialidosis (PMID: 11470272). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the NEU1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely disrupts the C-terminus of the protein.
OMIM RCV000002559 SCV000022717 pathogenic Sialidosis type 2 2001-07-20 no assertion criteria provided literature only

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.