ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.757del (p.Val253fs)

dbSNP: rs760281672
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381370 SCV001579736 pathogenic Mucopolysaccharidosis, MPS-III-A 2024-03-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val253Cysfs*11) in the SGSH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGSH are known to be pathogenic (PMID: 11182930, 21204211, 22976768). This variant is present in population databases (rs760281672, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1069492). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001820081 SCV002064168 pathogenic not provided 2024-03-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD)
Baylor Genetics RCV001381370 SCV004201086 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001381370 SCV005653282 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2024-06-17 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.