Submissions for variant NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)

gnomAD frequency: 0.00009  dbSNP: rs193251130

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000020818	SCV000192290	uncertain significance	Microcephaly 5, primary, autosomal recessive	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000152802	SCV000202192	benign	not specified	2017-02-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020818	SCV000352627	likely benign	Microcephaly 5, primary, autosomal recessive	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000152802	SCV000516061	benign	not specified	2016-07-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc	RCV000710653	SCV000840902	benign	not provided	2018-02-28	criteria provided, single submitter	clinical testing
Invitae	RCV000710653	SCV001040936	benign	not provided	2024-01-14	criteria provided, single submitter	clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV000020818	SCV001435148	benign	Microcephaly 5, primary, autosomal recessive		criteria provided, single submitter	research	The homozygous p.Gln3180Pro variant in ASPM has been identified in 4 siblings from 1 family with primary microcephaly (PMID: 16673149), and has been identified in >3% of South Asian chromosomes and 19 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive primary microcephaly.
CeGaT Center for Human Genetics Tuebingen	RCV000710653	SCV004009913	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ASPM: BP4, BS1, BS2
GeneReviews	RCV000020818	SCV000041405	not provided	Microcephaly 5, primary, autosomal recessive		no assertion provided	literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710653	SCV001798973	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710653	SCV001928151	likely benign	not provided		no assertion criteria provided	clinical testing