Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001088 | SCV001158223 | uncertain significance | Charcot-Marie-Tooth disease, type 4B3 | 2019-03-04 | criteria provided, single submitter | clinical testing | The SBF1 c.5507C>G; p.Ala1836Gly variant (rs373534319), to our knowledge, is not described in the medical literature or in gene-specific databases. It is observed in the non-Finnish European population at an overall frequency of 0.025% (32/128628 alleles) in the Genome Aggregation Database. The alanine at codon 1836 is moderately conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty. |