Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Genetic Testing Laboratories, |
RCV000000104 | SCV000782663 | pathogenic | Urofacial syndrome 1 | 2017-05-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001241819 | SCV001414867 | pathogenic | not provided | 2019-04-05 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the HPSE2 gene (p.Asn489Profs*126). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 104 amino acids of the HPSE2 protein. This variant is present in population databases (rs397515338, ExAC 0.03%). This variant has been observed in individuals with urofacial syndrome and has been reported to segregate with disease (PMID: 20560209, 20560210). ClinVar contains an entry for this variant (Variation ID: 84). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000000104 | SCV000020247 | pathogenic | Urofacial syndrome 1 | 2010-06-11 | no assertion criteria provided | literature only | |
Gene |
RCV000000104 | SCV000086986 | pathologic | Urofacial syndrome 1 | 2013-08-22 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |