Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383050 | SCV001582068 | pathogenic | Leber congenital amaurosis 3 | 2022-07-21 | 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: 236497). This premature translational stop signal has been observed in individual(s) with inherited retinal disease (PMID: 27208204). This variant is present in population databases (rs745422364, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ser354Phefs*4) in the SPATA7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPATA7 are known to be pathogenic (PMID: 19268277, 22334370, 23847139, 26047050, 26261414). |
Centre for Genomic Medicine, |
RCV000225504 | SCV000282607 | likely pathogenic | Retinal dystrophy | no assertion criteria provided | clinical testing |