ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.5467C>T (p.Gln1823Ter)

dbSNP: rs754909135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000416534 SCV000494440 pathogenic Microcephaly 5, primary, autosomal recessive 2016-04-28 criteria provided, single submitter clinical testing This ASPM heterozygous variant (inherited from the father) was found in combination with an another ASPM heterozygous mutation inherited from the mother (see below) in a fœtus with microcephaly and polymicrogyria

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