ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter)

dbSNP: rs189678019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000005246 SCV002521377 pathogenic Microcephaly 5, primary, autosomal recessive 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000004958). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000005246 SCV000025424 pathogenic Microcephaly 5, primary, autosomal recessive 2002-10-01 no assertion criteria provided literature only
GeneReviews RCV000005246 SCV000041380 not provided Microcephaly 5, primary, autosomal recessive no assertion provided literature only

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