Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001327072 | SCV001518132 | uncertain significance | CHARGE association | 2020-08-21 | 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 with SEMA3E-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with valine at codon 580 of the SEMA3E protein (p.Asp580Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. |
| Ambry Genetics | RCV002546209 | SCV003658203 | uncertain significance | Inborn genetic diseases | 2022-12-01 | criteria provided, single submitter | clinical testing | The c.1739A>T (p.D580V) alteration is located in exon 16 (coding exon 16) of the SEMA3E gene. This alteration results from a A to T substitution at nucleotide position 1739, causing the aspartic acid (D) at amino acid position 580 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |