Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000656089 | SCV000598587 | likely pathogenic | Microcephaly 5, primary, autosomal recessive | 2017-09-01 | criteria provided, single submitter | research | this variant was indentified in an individual with malformations of cortical development |
Invitae | RCV003727752 | SCV004535315 | pathogenic | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn324Lysfs*5) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of primary microcephaly (PMID: 29706646). ClinVar contains an entry for this variant (Variation ID: 438588). For these reasons, this variant has been classified as Pathogenic. |