Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001966231 | SCV002248441 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 2 | 2021-11-22 | 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with DSE-related conditions. This variant is present in population databases (rs143443243, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 688 of the DSE protein (p.Ala688Val). |
Ambry Genetics | RCV003170237 | SCV003899861 | uncertain significance | Inborn genetic diseases | 2023-02-16 | criteria provided, single submitter | clinical testing | The c.2063C>T (p.A688V) alteration is located in exon 6 (coding exon 5) of the DSE gene. This alteration results from a C to T substitution at nucleotide position 2063, causing the alanine (A) at amino acid position 688 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |