ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1415-9A>G

dbSNP: rs727503032
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150641 SCV000197978 uncertain significance not specified 2011-08-23 criteria provided, single submitter clinical testing The 1415-9A>G variant has not been previously reported in the literature nor bee n identified by our laboratory. The number of individuals sequenced by our labor atory is small and healthy control data is not available such that we cannot exc lude that this variant is common. Of note, it is unclear whether this variant is intronic or affects the protein. Based on the available reference sequence (NM_ 000501.2), this variant affects the splice consensus sequence at position -9. Va riants at this position sometimes have an effect on splicing. On the other hand Tassabehji et al. 1997 reported a transcript (hg19 chr7: g.73474198-73474378), w hich includes this position as a coding base. In this case the variant would lea d to an Asn475Ser change. In summary, additional data is required to determine t he clinical significance of this variant.
GeneDx RCV000150641 SCV000518986 likely benign not specified 2015-09-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.