Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667394 | SCV000791831 | pathogenic | Mucopolysaccharidosis, MPS-III-A | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667394 | SCV004296893 | pathogenic | Mucopolysaccharidosis, MPS-III-A | 2023-03-27 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 552173). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 9285796, 29023963). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val126Glyfs*10) 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). |