ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1289T>C (p.Val430Ala)

gnomAD frequency: 0.00001  dbSNP: rs767070801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001920500 SCV002182800 uncertain significance Bardet-Biedl syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 430 of the BBS4 protein (p.Val430Ala). This variant is present in population databases (rs767070801, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1411179). 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: "Benign"; 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.
PreventionGenetics, part of Exact Sciences RCV003416586 SCV004107797 uncertain significance BBS4-related disorder 2022-10-18 criteria provided, single submitter clinical testing The BBS4 c.1289T>C variant is predicted to result in the amino acid substitution p.Val430Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-73029143-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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