Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255071 | SCV000322384 | pathogenic | not provided | 2019-04-30 | criteria provided, single submitter | clinical testing | Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 111 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database(Stenson et al., 2014); This variant is associated with the following publications: (PMID: 22842230, 22842231, 22842229, 29178642, 28559085, 31589614, 32865313) |
Invitae | RCV000030768 | SCV001407778 | pathogenic | Leber congenital amaurosis 9 | 2023-09-27 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs371526758, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Trp169*) in the NMNAT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acid(s) of the NMNAT1 protein. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 265453). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 22842229, 22842230, 22842231, 29178642). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. |
OMIM | RCV000030768 | SCV000053429 | pathogenic | Leber congenital amaurosis 9 | 2012-09-01 | no assertion criteria provided | literature only | |
Laboratory of Genetics in Ophthalmology, |
RCV000030768 | SCV001433016 | pathogenic | Leber congenital amaurosis 9 | no assertion criteria provided | research |