Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001331028 | SCV001522934 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2020-10-16 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Labcorp Genetics |
RCV001384735 | SCV001584371 | pathogenic | not provided | 2022-06-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1029678). This variant has not been reported in the literature in individuals affected with ASPM-related conditions. This variant is present in population databases (rs77424753, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Trp3220*) 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). |
Genome- |
RCV001331028 | SCV004177541 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing |