ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)

dbSNP: rs1057516602
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
Counsyl RCV000410945 SCV000485933 likely pathogenic Mucolipidosis type IV 2016-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410945 SCV004445037 pathogenic Mucolipidosis type IV 2023-06-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn19Glnfs*69) in the MCOLN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCOLN1 are known to be pathogenic (PMID: 11030752, 11317355). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370580). This variant has not been reported in the literature in individuals affected with MCOLN1-related conditions.

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.