Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690486 | SCV000818173 | uncertain significance | Neuronal ceroid lipofuscinosis | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 569776). This variant has not been reported in the literature in individuals affected with CLN5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 262 of the CLN5 protein (p.Asn262Lys). |
Ambry Genetics | RCV002406554 | SCV002676824 | uncertain significance | Inborn genetic diseases | 2020-09-30 | criteria provided, single submitter | clinical testing | The p.N262K variant (also known as c.786T>A), located in coding exon 4 of the CLN5 gene, results from a T to A substitution at nucleotide position 786. The asparagine at codon 262 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |