Submissions for variant NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)

gnomAD frequency: 0.00160  dbSNP: rs77959215

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000594510	SCV000705396	uncertain significance	not provided	2017-01-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000766029	SCV000897467	uncertain significance	Microcephaly 1, primary, autosomal recessive	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000594510	SCV001043968	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000766029	SCV001321854	likely benign	Microcephaly 1, primary, autosomal recessive	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000594510	SCV004159479	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	MCPH1: BP4
PreventionGenetics, part of Exact Sciences	RCV003905533	SCV004724786	likely benign	MCPH1-related disorder	2022-09-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).