Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145435 | SCV000192519 | benign | not specified | 2013-04-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000995240 | SCV001149312 | uncertain significance | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001265961 | SCV001444133 | uncertain significance | Inborn genetic diseases | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000995240 | SCV003279688 | uncertain significance | not provided | 2022-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 108 of the CCDC88C protein (p.Gly108Ser). This variant is present in population databases (rs61745604, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CCDC88C-related conditions. ClinVar contains an entry for this variant (Variation ID: 158106). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |