Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003144946 | SCV003833670 | uncertain significance | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003633679 | SCV004526185 | uncertain significance | Lethal multiple pterygium syndrome | 2023-08-16 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 2440046). This variant has not been reported in the literature in individuals affected with CHRND-related conditions. This variant is present in population databases (rs746002657, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 274 of the CHRND protein (p.Ser274Arg). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. |