Submissions for variant NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter)

dbSNP: rs587783287

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145225	SCV000192276	pathogenic	Microcephaly 5, primary, autosomal recessive	2013-02-08	criteria provided, single submitter	clinical testing
3billion	RCV000145225	SCV002573058	pathogenic	Microcephaly 5, primary, autosomal recessive	2022-09-01	criteria provided, single submitter	clinical testing	The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Stop-gained (nonsense) is 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 to be associated with ASPM-related disorder (ClinVar ID: VCV000157904 / PMID: 20978018). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab	RCV000145225	SCV004177563	pathogenic	Microcephaly 5, primary, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000145225	SCV004801270	pathogenic	Microcephaly 5, primary, autosomal recessive	2024-03-14	criteria provided, single submitter	research