Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001000884 | SCV001157966 | uncertain significance | Leber congenital amaurosis 5 | 2019-01-03 | criteria provided, single submitter | clinical testing | The LCA5 c.2006G>A; p.Arg669Lys variant (rs371733166), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is listed in the general population with an allele frequency of 0.0008% (2/251158 alleles) in the Genome Aggregation Database. The arginine at this position is moderately conserved and computational analyses (PolyPhen-2, SIFT) predict this variant is deleterious. However, most pathogenic LCA5 variants are truncating (Mackay 2013). Considering available information, the clinical significance of this variant cannot be determined with certainty. References: Mackay DS et al. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat. 2013 Nov;34(11):1537-1546. |
Invitae | RCV001349643 | SCV001543998 | uncertain significance | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with LCA5-related conditions. ClinVar contains an entry for this variant (Variation ID: 811180). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Natera, |
RCV001000884 | SCV002076744 | uncertain significance | Leber congenital amaurosis 5 | 2020-09-23 | no assertion criteria provided | clinical testing |