ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys)

gnomAD frequency: 0.00011  dbSNP: rs150961792
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001361040 SCV001557001 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 584 of the SDCCAG8 protein (p.Glu584Lys). This variant is present in population databases (rs150961792, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1052788). 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: "Possibly Damaging"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV001361040 SCV002782774 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-09-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528482 SCV004103609 uncertain significance SDCCAG8-related disorder 2023-08-17 criteria provided, single submitter clinical testing The SDCCAG8 c.1750G>A variant is predicted to result in the amino acid substitution p.Glu584Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-243581275-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.