Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000697006 | SCV000825594 | uncertain significance | Luscan-Lumish syndrome | 2018-03-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 368 of the SETD2 protein (p.Arg368Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SETD2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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 | RCV002534337 | SCV003636778 | uncertain significance | Inborn genetic diseases | 2022-09-07 | criteria provided, single submitter | clinical testing | The c.1103G>A (p.R368Q) alteration is located in exon 3 (coding exon 3) of the SETD2 gene. This alteration results from a G to A substitution at nucleotide position 1103, causing the arginine (R) at amino acid position 368 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |