Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624217 | SCV000741565 | pathogenic | Inborn genetic diseases | 2017-02-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003556233 | SCV004297485 | pathogenic | not provided | 2023-02-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val232Glyfs*54) in the XYLT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in XYLT2 are known to be pathogenic (PMID: 26027496, 26987875). This variant is present in population databases (rs759761618, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with spondyloocular syndrome (PMID: 26027496). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 207977). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000190243 | SCV000243767 | pathogenic | Spondylo-ocular syndrome | 2015-06-04 | no assertion criteria provided | literature only |