Submissions for variant NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg)

dbSNP: rs36004306

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000145233	SCV000167048	benign	not specified	2013-12-18	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.
Genetic Services Laboratory, University of Chicago	RCV000145233	SCV000192286	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145233	SCV000313180	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020815	SCV000352630	benign	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000145233	SCV000538363	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Athena Diagnostics	RCV000710652	SCV000840901	benign	not provided	2017-09-13	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000020815	SCV000883233	benign	Microcephaly 5, primary, autosomal recessive	2018-10-15	criteria provided, single submitter	curation	This variant is interpreted as Benign, for Microcephaly 5, primary, autosomal recessive. The following ACMG Tag(s) were applied: BP1 => Missense in gene where only truncating cause disease. BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS1 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BS2 => Allele frequency is greater than expected for disorder.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710652	SCV002481870	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020815	SCV004177553	benign	Microcephaly 5, primary, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710652	SCV005287448	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000020815	SCV000041402	not provided	Microcephaly 5, primary, autosomal recessive		no assertion provided	literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145233	SCV001956594	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000145233	SCV001966494	benign	not specified		no assertion criteria provided	clinical testing