Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000585309 | SCV000693199 | uncertain significance | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001348408 | SCV001542710 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 504 of the ADAMTS2 protein (p.Thr504Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs765595538, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 493425). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |
Gene |
RCV000585309 | SCV002038605 | uncertain significance | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533, 26582918) |
Ambry Genetics | RCV002530862 | SCV003752912 | uncertain significance | Inborn genetic diseases | 2021-12-06 | criteria provided, single submitter | clinical testing | The c.1511C>T (p.T504M) alteration is located in exon 9 (coding exon 9) of the ADAMTS2 gene. This alteration results from a C to T substitution at nucleotide position 1511, causing the threonine (T) at amino acid position 504 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001348408 | SCV002084189 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2019-10-28 | no assertion criteria provided | clinical testing |