ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)

gnomAD frequency: 0.00001  dbSNP: rs774159147
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
Invitae RCV000810822 SCV000951057 uncertain significance Adenylosuccinate lyase deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 343 of the ADSL protein (p.Glu343Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs774159147, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with ADSL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Genetics Laboratory, Edith Wolfson Medical Center RCV000810822 SCV001431004 likely pathogenic Adenylosuccinate lyase deficiency 2020-03-01 no assertion criteria provided in vitro Whole Exome Sequencing revealed a novel homozygous variant in the ADSL gene: c.1027G>A ; (p.E343K), inherited from each heterozygous parent. There was a marked elevation of urine succinyladenosine (S-Ado), confirming the diagnosis of ADSL deficiency. In conclusion: Myoclonic tremor status expands the spectrum of movement disorders seen in Adenylosuccinate Lyase deficiency.

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.