Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000001461 | SCV001224522 | pathogenic | Leber congenital amaurosis 3 | 2019-12-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SPATA7 are known to be pathogenic (PMID: 19268277, 22334370, 23847139, 26047050, 26261414). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 19268277). ClinVar contains an entry for this variant (Variation ID: 1396). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Pro321Thrfs*6) in the SPATA7 gene. It is expected to result in an absent or disrupted protein product. |
OMIM | RCV000001461 | SCV000021616 | pathogenic | Leber congenital amaurosis 3 | 2011-05-09 | no assertion criteria provided | literature only | |
Gene |
RCV000001461 | SCV000086980 | not provided | Leber congenital amaurosis 3 | no assertion provided | literature only |