ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1352C>T (p.Thr451Ile)

gnomAD frequency: 0.00002  dbSNP: rs762653933
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 RCV001937171 SCV002129579 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 451 of the SDCCAG8 protein (p.Thr451Ile). This variant is present in population databases (rs762653933, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SDCCAG8-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: "Tolerated"; PolyPhen-2: "Probably 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.
Ambry Genetics RCV002550306 SCV003649932 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.1352C>T (p.T451I) alteration is located in exon 11 (coding exon 11) of the SDCCAG8 gene. This alteration results from a C to T substitution at nucleotide position 1352, causing the threonine (T) at amino acid position 451 to be replaced by an isoleucine (I). 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.