Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001206053 | SCV001377340 | uncertain significance | Severe myoclonic epilepsy in infancy | 2019-09-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with SNX27-related conditions. This variant is present in population databases (rs751866300, ExAC 0.02%). This sequence change replaces arginine with lysine at codon 524 of the SNX27 protein (p.Arg524Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Ambry Genetics | RCV005278758 | SCV005939979 | uncertain significance | Inborn genetic diseases | 2025-01-17 | criteria provided, single submitter | clinical testing | The c.1571G>A (p.R524K) alteration is located in exon 11 (coding exon 11) of the SNX27 gene. This alteration results from a G to A substitution at nucleotide position 1571, causing the arginine (R) at amino acid position 524 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |