Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857361 | SCV002254778 | uncertain significance | not provided | 2022-03-10 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with leucine at codon 179 of the ADAMTS18 protein (p.Ser179Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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"). ClinVar contains an entry for this variant (Variation ID: 30670). This variant has not been reported in the literature in individuals affected with ADAMTS18-related conditions. This variant is present in population databases (rs387906972, gnomAD 0.02%). |
OMIM | RCV000023647 | SCV000044938 | uncertain significance | Knobloch syndrome | 2013-08-01 | no assertion criteria provided | literature only |