Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV001252680 | SCV004047804 | uncertain significance | Developmental and epileptic encephalopathy, 87 | criteria provided, single submitter | clinical testing | The c.95A>G(p.Tyr32Cys) missense variant in CDK19 gene has been submitted to ClinVar as Likely Pathogenic, but no details are available for independent assessment. It has not been reported in affected individuals. The p.Tyr32Cys variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Tyr at position 32 is changed to a Cys changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS). | |
Zarate Arkansas Children's Genetics Clinic, |
RCV001252680 | SCV001428439 | likely pathogenic | Developmental and epileptic encephalopathy, 87 | 2020-08-11 | no assertion criteria provided | clinical testing | De novo variant, in conserved residue, absent in population databases, located in functional domain with other variants, anoter substitution at residue interpreted as pathogenic |