Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001342953 | SCV001536905 | benign | Congenital contractural arachnodactyly | 2022-12-06 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001810725 | SCV002047710 | uncertain significance | not provided | 2021-03-09 | criteria provided, single submitter | clinical testing | The FBN2 c.251G>A; p.Arg84Gln variant (rs747084358), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on a single chromosome in the Genome Aggregation Database (1/241528 alleles), indicating it is not a common polymorphism. The arginine at codon 84 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.427). However, given the lack of clinical and functional data, the significance of the p.Arg84Gln variant is uncertain at this time. |