Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222155 | SCV000272453 | uncertain significance | not specified | 2015-08-10 | criteria provided, single submitter | clinical testing | The c.-12G>T variant in SPRED1 has been not previously reported in individuals w ith Legius syndrome. It has been identified in 1/1760 East Asian chromosomes and 1/8404 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org; dbSNP rs371200183). This variant is located in the 5' UTR and is not part of the translation initiation (Kozak) sequence, but its eff ect on translation is unknown. In summary, the clinical significance of the c.-1 2G>T variant is uncertain. |