ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter)

dbSNP: rs587783248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145142 SCV000192190 pathogenic Microcephaly 5, primary, autosomal recessive 2012-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514792 SCV002979529 pathogenic not provided 2022-03-29 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: 157831). This variant has not been reported in the literature in individuals affected with ASPM-related conditions. This variant is present in population databases (rs587783248, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg1745*) 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-Nilou Lab RCV000145142 SCV004178644 pathogenic Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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