Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001065467 | SCV001230425 | uncertain significance | Leber congenital amaurosis 7; Cone-rod dystrophy 2 | 2022-07-12 | 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. ClinVar contains an entry for this variant (Variation ID: 859372). This variant has not been reported in the literature in individuals affected with CRX-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 164 of the CRX protein (p.Ser164Asn). |
Ambry Genetics | RCV002555842 | SCV003569670 | uncertain significance | Inborn genetic diseases | 2021-08-04 | criteria provided, single submitter | clinical testing | The c.491G>A (p.S164N) alteration is located in exon 4 (coding exon 3) of the CRX gene. This alteration results from a G to A substitution at nucleotide position 491, causing the serine (S) at amino acid position 164 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |