Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003338073 | SCV004046970 | likely pathogenic | Periventricular heterotopia with microcephaly, autosomal recessive | criteria provided, single submitter | clinical testing | The stop gained variant c.91C>T (p.Gln31Ter) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge.. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The nucleotide change in ARFGEF2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is predicted to cause loss of function due to premature truncation.Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely pathogenic. |