Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002514473 | SCV000958397 | uncertain significance | Blau syndrome; Regional enteritis | 2018-09-24 | criteria provided, single submitter | clinical testing | 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, but this prediction has not been confirmed by published transcriptional studies. Experimental studies have shown that this missense change disrupts NOD2 protein function (PMID: 26500656). This variant has been observed in an individual affected with Crohn's disease (PMID: 15024686). ClinVar contains an entry for this variant (Variation ID: 97836). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 550 of the NOD2 protein (p.Leu550Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. |
Unité médicale des maladies autoinflammatoires, |
RCV000084093 | SCV000116223 | not provided | Blau syndrome | no assertion provided | not provided |