ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.983C>T (p.Ala328Val)

dbSNP: rs755533153
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 RCV002019058 SCV002263635 uncertain significance Bardet-Biedl syndrome 2022-03-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 318 of the TTC8 protein (p.Ala318Val). This variant is present in population databases (rs755533153, gnomAD 0.003%). 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TTC8-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002492213 SCV002796924 uncertain significance Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 2022-04-06 criteria provided, single submitter clinical testing

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.