Submissions for variant NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs)

dbSNP: rs770540184

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles	RCV001007666	SCV000998532	pathogenic	Microcephaly 5, primary, autosomal recessive		criteria provided, single submitter	clinical testing
GeneDx	RCV003128717	SCV003806235	pathogenic	not provided	2022-08-25	criteria provided, single submitter	clinical testing	Observed in the heterozygous state with a second ASPM variant in a patient with ASPM-related primary microcephaly in published literature, however, it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Passemard et al., 2009); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift 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; This variant is associated with the following publications: (PMID: 29431480, 20301772, 34402213, 31696992, 19808985, 19770472)
Genome-Nilou Lab	RCV001007666	SCV004178605	pathogenic	Microcephaly 5, primary, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré	RCV001007666	SCV001432359	likely pathogenic	Microcephaly 5, primary, autosomal recessive		no assertion criteria provided	clinical testing