Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV003151656 | SCV003840063 | uncertain significance | not specified | 2022-05-09 | no assertion criteria provided | clinical testing | DNA sequence analysis of the SLX4 gene demonstrated a sequence change, c.1929G>C, in exon 9 that results in an amino acid change, p.Leu643Phe. This sequence change does not appear to have been previously described in individuals with SLX4-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.00080% (dbSNP rs778062467). The p.Leu643Phe change affects a poorly conserved amino acid residue located in a domain of the SLX4 protein that is not known to be functional. The p.Leu643Phe substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Leu643Phe change remains unknown at this time. |