Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000221611 | SCV000278940 | pathogenic | not provided | 2021-01-05 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22230390, 17393462, 12355493, 15593220, 25653548, 20131270, 27314497, 25407006) |
Invitae | RCV001854470 | SCV002222130 | pathogenic | Cryopyrin associated periodic syndrome | 2021-01-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NLRP3 protein function. This variant has been observed in individual(s) with familial cold autoinflammatory syndrome (PMID: 12355493, 17393462, 20131270, 15593220). It has also been observed to segregate with disease in related individuals. This variant is also called L305P in the literature. ClinVar contains an entry for this variant (Variation ID: 97982). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 307 of the NLRP3 protein (p.Leu307Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |
Genome Diagnostics Laboratory, |
RCV002262697 | SCV002542648 | likely pathogenic | Autoinflammatory syndrome | 2021-09-28 | criteria provided, single submitter | clinical testing | |
Unité médicale des maladies autoinflammatoires, |
RCV000084244 | SCV000116380 | not provided | Familial cold autoinflammatory syndrome 1 | no assertion provided | not provided |