ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer)

dbSNP: rs1334301723
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714742 SCV000845470 likely pathogenic Microcephaly 5, primary, autosomal recessive 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV002532975 SCV002975429 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys2214*) 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 (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ASPM-related conditions. ClinVar contains an entry for this variant (Variation ID: 587532). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000714742 SCV004178607 likely pathogenic Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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