ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) (rs541533278)

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
Fulgent Genetics,Fulgent Genetics RCV000652118 SCV000894773 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000652118 SCV000773986 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2017-08-22 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 173 of the SDCCAG8 protein (p.Leu173Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs541533278, ExAC 0.02%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with SDCCAG8-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; 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.

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.