Submissions for variant NM_022726.4(ELOVL4):c.289-2A>G

dbSNP: rs1554162524

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002307524	SCV002600589	likely pathogenic	ELOVL4-related disorder	2022-10-19	criteria provided, single submitter	clinical testing	Variant summary: ELOVL4 c.289-2A>G is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 250232 control chromosomes. To our knowledge, no occurrence of c.289-2A>G in individuals affected with ELOVL4-Related Disorder and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV000497810	SCV000586696	likely pathogenic	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	2017-07-06	no assertion criteria provided	clinical testing	This variant has not been reported in 1000 Genomes and ExAC. However, this variant is been reported as damaging by Mutation Taster.