Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV001030760 | SCV001190107 | uncertain significance | Stromme syndrome | 2019-12-18 | criteria provided, single submitter | clinical testing | The c.3424A>G variant is not present in publicly available databases like 1000 Genomes and Exome Variant Server (EVS) however present in Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP at a very low frequency (<0.00001), only in heterozygous state. The variant is present in our in-house exome database in heterozygous state (MAF<0.001). The variant was not reported to OMIM, ClinVar and Human Genome Mutation Database (HGMD) in any other affected individuals. Predictions from different In-silico pathogenicity prediction programs are contradictory. Due to lack of enough evidence the variant has been classified as uncertain significance as per ACMG guidelines. |