Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000020773 | SCV000192164 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000020773 | SCV001522645 | 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]. |
Invitae | RCV001384736 | SCV001584372 | pathogenic | not provided | 2021-12-03 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs140602858, gnomAD 0.007%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 21583). This premature translational stop signal has been observed in individuals with autosomal recessive primary microcephaly (PMID: 14574646, 23611254). This sequence change creates a premature translational stop signal (p.Arg1271*) 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- |
RCV000020773 | SCV004178693 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000020773 | SCV000041353 | not provided | Microcephaly 5, primary, autosomal recessive | no assertion provided | literature only | ||
Genome Diagnostics Laboratory, |
RCV001384736 | SCV001931055 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001384736 | SCV001952261 | pathogenic | not provided | no assertion criteria provided | clinical testing |