ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter)

gnomAD frequency: 0.00004  dbSNP: rs199910503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627285 SCV000748277 pathogenic not provided 2023-12-13 criteria provided, single submitter clinical testing Reported in multiple individuals with MCPH, primary microcephaly with cortical malformation, or microcephalic primordial dwarfism, who also harbored a second ASPM variant; however phase was undetermined (PMID: 29243349); Nonsense 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29243349)
Fulgent Genetics, Fulgent Genetics RCV000762873 SCV000893253 pathogenic Microcephaly 5, primary, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000762873 SCV004178609 pathogenic Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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