ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg)

gnomAD frequency: 0.00012  dbSNP: rs199711874
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760318 SCV001989096 uncertain significance not provided 2019-04-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002537783 SCV003251416 uncertain significance Bardet-Biedl syndrome 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 438 of the BBS1 protein (p.Thr438Arg). This variant is present in population databases (rs199711874, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 990067). 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"). 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.
Natera, Inc. RCV001278008 SCV001464996 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003928808 SCV004744979 uncertain significance BBS1-related disorder 2024-03-28 no assertion criteria provided clinical testing The BBS1 c.1313C>G variant is predicted to result in the amino acid substitution p.Thr438Arg. This variant was reported along with a second BBS1 missense variant in an individual with a syndromic congenital heart disease (Best et al. 2022. PubMed ID: 35764379). This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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