Submissions for variant NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr)

gnomAD frequency: 0.00155  dbSNP: rs138138436

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145227	SCV000192279	benign	not specified	2013-04-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625877	SCV000352631	uncertain significance	Microcephaly 5, primary, autosomal recessive	2018-01-12	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	RCV000904302	SCV000530310	likely benign	not provided	2020-06-19	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000625877	SCV000746452	likely benign	Microcephaly 5, primary, autosomal recessive	2018-10-12	criteria provided, single submitter	clinical testing
Invitae	RCV000904302	SCV001048814	benign	not provided	2024-01-02	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000904302	SCV001143079	benign	not provided	2019-03-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000904302	SCV001147570	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ASPM: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003935235	SCV004747383	likely benign	ASPM-related condition	2020-04-02	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000904302	SCV001798169	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000904302	SCV001975559	likely benign	not provided		no assertion criteria provided	clinical testing