ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter)

gnomAD frequency: 0.00001  dbSNP: rs769364943
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710645 SCV000840893 pathogenic not provided 2018-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710645 SCV003459829 pathogenic not provided 2022-06-21 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: 585449). This sequence change creates a premature translational stop signal (p.Arg2442*) 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). This variant is present in population databases (rs769364943, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with clinical features of primary microcephaly (PMID: 29388391).
Genome-Nilou Lab RCV003453512 SCV004177607 pathogenic Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV003453512 SCV005873756 likely pathogenic Microcephaly 5, primary, autosomal recessive 2022-09-29 criteria provided, single submitter clinical testing

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