Submissions for variant NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)

dbSNP: rs199422147

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000020750	SCV000192133	pathogenic	Microcephaly 5, primary, autosomal recessive	2013-02-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000215743	SCV000278792	pathogenic	not provided	2014-05-09	criteria provided, single submitter	clinical testing	The c.1959_1962delCAAA mutation in the ASPM gene has been reported previously in association with primary microcephaly (Bond et al., 2003). The deletion of four bases causes a frameshift starting with codon Asparagine 653, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Asn653LysfsX14 (N653KfsX14). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Kariminejad - Najmabadi Pathology & Genetics Center	RCV001814007	SCV001755266	pathogenic	Abnormality of the nervous system	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020750	SCV004178738	pathogenic	Microcephaly 5, primary, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing
GeneReviews	RCV000020750	SCV000041329	not provided	Microcephaly 5, primary, autosomal recessive		no assertion provided	literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000020750	SCV001469302	likely pathogenic	Microcephaly 5, primary, autosomal recessive	2020-11-12	no assertion criteria provided	clinical testing