Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001802292 | SCV002050128 | uncertain significance | Shprintzen-Goldberg syndrome | 2021-01-31 | criteria provided, single submitter | clinical testing | The SKI c.1096A>C; p.Ser366Arg variant (rs1269741981), 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 (1/251098 alleles), indicating it is not a common polymorphism. The serine at codon 366 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.283). However, due to limited information, the clinical significance of the p.Ser366Arg variant is uncertain at this time. |