ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter)

dbSNP: rs199422157
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000020767 SCV002058736 pathogenic Microcephaly 5, primary, autosomal recessive 2022-01-03 criteria provided, single submitter clinical testing 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 (PVS1_VS).The variant has been reported to be associated with ASPM related disorder (PMID:14574646).It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
GeneReviews RCV000020767 SCV000041347 not provided Microcephaly 5, primary, autosomal recessive no assertion provided literature only

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