Submissions for variant NM_018136.5(ASPM):c.7620A>G (p.Ala2540=)

gnomAD frequency: 0.00118  dbSNP: rs147160053

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723816	SCV000202193	uncertain significance	not provided	2017-06-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000194290	SCV000246598	uncertain significance	not specified	2014-10-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356625	SCV000352656	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	RCV000723816	SCV000525177	likely benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000723816	SCV001032023	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723816	SCV003916537	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ASPM: BP4, BP7