ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile)

gnomAD frequency: 0.00011  dbSNP: rs139303948
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204506 SCV000260433 uncertain significance Bardet-Biedl syndrome 2022-08-15 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 496 of the BBS9 protein (p.Thr496Ile). This variant is present in population databases (rs139303948, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with BBS9-related conditions. ClinVar contains an entry for this variant (Variation ID: 220123). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002494525 SCV002777752 uncertain significance Bardet-Biedl syndrome 9 2022-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002515522 SCV003580366 uncertain significance Inborn genetic diseases 2022-05-31 criteria provided, single submitter clinical testing The c.1487C>T (p.T496I) alteration is located in exon 14 (coding exon 13) of the BBS9 gene. This alteration results from a C to T substitution at nucleotide position 1487, causing the threonine (T) at amino acid position 496 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Preventiongenetics, part of Exact Sciences RCV003417743 SCV004108557 uncertain significance BBS9-related condition 2023-08-01 criteria provided, single submitter clinical testing The BBS9 c.1487C>T variant is predicted to result in the amino acid substitution p.Thr496Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-33390885-C-T). 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.