ClinVar

Description

The c.67+1delG splice site variant in the ELA2 gene was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant destroys the canonical splice donor site in intron 1 and is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, in the absence of RNA/functional studies, the actual effect of the variant is unknown. No known mutations in exon 1 of the ELA2 gene have been published in association with an ELA2-related disorder. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.