Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061376 | SCV001226116 | pathogenic | not provided | 2019-12-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg506*) in the HPSE2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs267606866, ExAC 0.006%). This variant has been observed in individual(s) with urofacial syndrome (PMID: 20560209). ClinVar contains an entry for this variant (Variation ID: 83). Loss-of-function variants in HPSE2 are known to be pathogenic (PMID: 20560209, 20560210). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000000103 | SCV000020246 | pathogenic | Urofacial syndrome 1 | 2010-06-11 | no assertion criteria provided | literature only | |
Gene |
RCV000000103 | SCV000086987 | pathologic | Urofacial syndrome 1 | 2013-08-22 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |