ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg)

gnomAD frequency: 0.01514  dbSNP: rs61249253
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145152 SCV000192200 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271165 SCV000352680 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.
GeneDx RCV000145152 SCV000512120 benign not specified 2015-09-18 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514974 SCV000610934 benign not provided 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV000514974 SCV001116934 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514974 SCV001143074 benign not provided 2019-07-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000271165 SCV002803428 likely benign Microcephaly 5, primary, autosomal recessive 2021-11-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000271165 SCV004178630 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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