ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.2400C>T (p.Tyr800=)

gnomAD frequency: 0.02559  dbSNP: rs7017210
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146311 SCV000193577 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356194 SCV000474666 benign Microcephaly 1, 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 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000963644 SCV001110813 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000963644 SCV001840900 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000963644 SCV005272206 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003917445 SCV004731829 benign MCPH1-related disorder 2019-10-16 no assertion criteria provided 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).

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