ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)

gnomAD frequency: 0.00001  dbSNP: rs1395749164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064559 SCV001229469 uncertain significance Bardet-Biedl syndrome 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 31 of the BBS5 protein (p.Ile31Thr). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with BBS5-related conditions. ClinVar contains an entry for this variant (Variation ID: 858646). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002479378 SCV002777796 uncertain significance Bardet-Biedl syndrome 5 2022-03-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003425906 SCV004117221 uncertain significance BBS5-related condition 2022-10-24 criteria provided, single submitter clinical testing The BBS5 c.92T>C variant is predicted to result in the amino acid substitution p.Ile31Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-170338793-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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