Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001331025 | SCV001522931 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2020-01-16 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Labcorp Genetics |
RCV001863234 | SCV002221775 | pathogenic | not provided | 2021-08-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2332*) 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 (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with primary microcephaly (PMID: 20679666). ClinVar contains an entry for this variant (Variation ID: 1029675). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV001331025 | SCV004178592 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing |