Submissions for variant NM_018136.5(ASPM):c.646G>A (p.Glu216Lys)

gnomAD frequency: 0.00137  dbSNP: rs151050191

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145168	SCV000192217	uncertain significance	Microcephaly 5, primary, autosomal recessive	2013-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000210594	SCV000262995	uncertain significance	Inborn genetic diseases	2014-03-27	criteria provided, single submitter	clinical testing	There is insufficient or conflicting evidence for classification of this alteration.
Eurofins Ntd Llc (ga)	RCV000342070	SCV000343260	likely benign	not specified	2016-06-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000145168	SCV000352751	uncertain significance	Microcephaly 5, primary, autosomal recessive	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000710641	SCV000715982	likely benign	not provided	2021-03-10	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000342070	SCV000840888	benign	not specified	2020-02-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710641	SCV000891867	likely benign	not provided	2018-09-01	criteria provided, single submitter	clinical testing
Invitae	RCV000710641	SCV001109958	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917437	SCV004734902	benign	ASPM-related condition	2019-05-28	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).