Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000235002 | SCV000246580 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000219412 | SCV000279281 | pathogenic | not provided | 2023-10-31 | criteria provided, single submitter | clinical testing | Reported previously using alternate nomenclature c.1152_1153delAG in the heterozygous state with a second ASPM variant an individual with congenital microcephaly, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (PMID: 19028728); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 35568357, 37599996, 19028728) |
Department of Medical Genetics, |
RCV000235002 | SCV001548196 | pathogenic | Microcephaly 5, primary, autosomal recessive | criteria provided, single submitter | research | ||
Invitae | RCV000219412 | SCV002247050 | pathogenic | not provided | 2022-09-16 | 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: 234465). This variant is also known as c.1152_1153delAG (p.Ser384fs). This premature translational stop signal has been observed in individual(s) with primary microcephaly (PMID: 19028728). This variant is present in population databases (rs753424199, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Glu385Valfs*3) 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- |
RCV000235002 | SCV004178769 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000235002 | SCV000041318 | not provided | Microcephaly 5, primary, autosomal recessive | no assertion provided | literature only |