Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002004 | SCV001159820 | uncertain significance | Charcot-Marie-Tooth disease, type 4B3 | 2018-08-05 | criteria provided, single submitter | clinical testing | The SBF1 c.4639C>T; p.Arg1547Trp variant (rs370182117), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.03% (75/276800 alleles) in the Genome Aggregation Database. The arginine at codon 1547 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Arg1547Trp variant is uncertain at this time. |