ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.390+1G>A

dbSNP: rs777096695
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000538499 SCV000644122 likely pathogenic Sengers syndrome 2017-02-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the AGK gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with an AGK-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in AGK are known to be pathogenic (PMID: 22284826). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV005208714 SCV001576431 likely pathogenic Sengers syndrome; Cataract 38 2017-02-06 criteria provided, single submitter clinical testing In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in AGK are known to be pathogenic (PMID: 22284826). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with an AGK-related disease. This sequence change affects a donor splice site in intron 6 of the AGK gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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.