Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000714742 | SCV000845470 | likely pathogenic | Microcephaly 5, primary, autosomal recessive | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532975 | SCV002975429 | pathogenic | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys2214*) in the ASPM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASPM are known to be pathogenic (PMID: 19028728, 23611254). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ASPM-related conditions. ClinVar contains an entry for this variant (Variation ID: 587532). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000714742 | SCV004178607 | likely pathogenic | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing |