Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721458 | SCV000535023 | likely benign | not provided | 2018-04-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001331798 | SCV001523921 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 2 | 2019-11-20 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001331798 | SCV003266881 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 2 | 2022-05-31 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 120 of the DSE protein (p.Ile120Thr). This variant is present in population databases (rs147451395, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DSE-related conditions. ClinVar contains an entry for this variant (Variation ID: 391864). 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"). 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. |