Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002909110 | SCV003254076 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 2 | 2022-10-25 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DSE protein function. This variant has not been reported in the literature in individuals affected with DSE-related conditions. This variant is present in population databases (rs148121424, gnomAD 0.03%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 691 of the DSE protein (p.Lys691Arg). |
Ambry Genetics | RCV002909111 | SCV003727255 | uncertain significance | Inborn genetic diseases | 2021-12-14 | criteria provided, single submitter | clinical testing | The c.2072A>G (p.K691R) alteration is located in exon 6 (coding exon 5) of the DSE gene. This alteration results from a A to G substitution at nucleotide position 2072, causing the lysine (K) at amino acid position 691 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |