Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002628231 | SCV003509797 | uncertain significance | Exostoses, multiple, type 2 | 2021-12-27 | 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 C0"). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This variant is present in population databases (rs768999889, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 158 of the EXT2 protein (p.Asp158Asn). |
Ambry Genetics | RCV002628232 | SCV003672335 | uncertain significance | Inborn genetic diseases | 2022-12-28 | criteria provided, single submitter | clinical testing | The c.472G>A (p.D158N) alteration is located in exon 2 (coding exon 1) of the EXT2 gene. This alteration results from a G to A substitution at nucleotide position 472, causing the aspartic acid (D) at amino acid position 158 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |