Submissions for variant NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly)

gnomAD frequency: 0.00217  dbSNP: rs45540031

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000174601	SCV000193578	likely benign	not specified	2016-08-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000174601	SCV000225923	benign	not specified	2015-04-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000406344	SCV000474667	uncertain significance	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, 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	RCV000488119	SCV000519822	likely benign	not provided	2020-06-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000488119	SCV000575539	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	MCPH1: BP4, BS2
Invitae	RCV000488119	SCV001111623	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000174601	SCV001958644	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000488119	SCV001973697	likely benign	not provided		no assertion criteria provided	clinical testing