Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473008 | SCV000553184 | likely benign | Congenital contractural arachnodactyly | 2023-01-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001001161 | SCV001158312 | uncertain significance | not specified | 2019-03-26 | criteria provided, single submitter | clinical testing | The FBN2 c.7058G>A; p.Arg2353His variant (rs775905979), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 411818). This variant is only observed on 3 out of 250,820 allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 2353 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg2353His variant is uncertain at this time. |