Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171286 | SCV000221483 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Invitae | RCV001342675 | SCV001536620 | uncertain significance | Leber congenital amaurosis 7; Cone-rod dystrophy 2 | 2020-08-25 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with cone rod dystrophy or retinitis pigmentosa (PMID: 26355662, Invitae). ClinVar contains an entry for this variant (Variation ID: 191106). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 92 of the CRX protein (p.Ala92Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. |
Faculty of Health Sciences, |
RCV001257853 | SCV001434620 | pathogenic | Autosomal dominant retinitis pigmentosa | 2015-09-10 | no assertion criteria provided | literature only |