Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000803259 | SCV000943122 | uncertain significance | Luscan-Lumish syndrome | 2018-10-08 | 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SETD2-related disease. This variant is present in population databases (rs753435281, ExAC 0.002%). This sequence change replaces serine with asparagine at codon 1084 of the SETD2 protein (p.Ser1084Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. |
Ambry Genetics | RCV002534738 | SCV003570603 | uncertain significance | Inborn genetic diseases | 2021-08-02 | criteria provided, single submitter | clinical testing | The c.3251G>A (p.S1084N) 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 3251, causing the serine (S) at amino acid position 1084 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV003884737 | SCV004700786 | uncertain significance | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing |