Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Breda Genetics srl | RCV001723514 | SCV001950191 | uncertain significance | Shprintzen-Goldberg syndrome | 2021-02-18 | criteria provided, single submitter | clinical testing | The variant is a synonymous change (which does not introduce changes in the amino acid sequence) that falls into exon 1 of the SKI gene. The variant c.219G>A (p.Val73Val) is not reported in the dbSNP, gnomAD, 1000 Genomes Project or ClinVar databases. In silico analysis indicates a possible alteration of ESE/ESS sequences present in the exon (HSF System). Although loss-of-function variants in the SKI gene are not reported in the literature as pathogenic, some ClinVar entries suggest that this possibility cannot be ruled out. |