Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, |
RCV000005253 | SCV000998531 | pathogenic | Microcephaly 5, primary, autosomal recessive | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV001851664 | SCV002133105 | pathogenic | not provided | 2022-11-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 4965). This premature translational stop signal has been observed in individual(s) with primary microcephaly (PMID: 19770472, 31696992). This variant is present in population databases (rs145489194, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg797*) 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000005253 | SCV003817929 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2021-12-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000005253 | SCV004178723 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000005253 | SCV000025431 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2009-07-01 | no assertion criteria provided | literature only | |
Gene |
RCV000005253 | SCV000041332 | not provided | Microcephaly 5, primary, autosomal recessive | no assertion provided | literature only | ||
Service de Génétique Moléculaire, |
RCV000005253 | SCV001432354 | pathogenic | Microcephaly 5, primary, autosomal recessive | no assertion criteria provided | clinical testing |