Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000762081 | SCV000892337 | uncertain significance | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001000629 | SCV001157641 | uncertain significance | Charcot-Marie-Tooth disease, type 4B3 | 2018-11-20 | criteria provided, single submitter | clinical testing | The SBF1 c.5471G>A; p.Arg1824His variant (rs202149945), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the non-Finnish European population with an allele frequency of 0.054% (69/128,564 alleles, including a single homozygote) in the Genome Aggregation Database. The arginine at codon 1824 is moderately conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg1824His variant is uncertain at this time. |