Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003555899 | SCV004293269 | pathogenic | not provided | 2023-04-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2451). This premature translational stop signal has been observed in individual(s) with clinical features of sialidosis type II (PMID: 11702224). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp29*) in the NEU1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEU1 are known to be pathogenic (PMID: 11063730, 14517945). |
OMIM | RCV000002555 | SCV000022713 | pathogenic | Sialidosis type 2 | 2001-10-01 | no assertion criteria provided | literature only |