ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys)

gnomAD frequency: 0.00001  dbSNP: rs780671703
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 RCV001323036 SCV001513933 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2020-06-18 criteria provided, single submitter clinical testing 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 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. This variant has not been reported in the literature in individuals with SDCCAG8-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glutamic acid with lysine at codon 367 of the SDCCAG8 protein (p.Glu367Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Fulgent Genetics, Fulgent Genetics RCV001323036 SCV002784999 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035093 SCV004944629 uncertain significance Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing The c.1099G>A (p.E367K) alteration is located in exon 10 (coding exon 10) of the SDCCAG8 gene. This alteration results from a G to A substitution at nucleotide position 1099, causing the glutamic acid (E) at amino acid position 367 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.