ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.631C>T (p.Leu211Phe)

dbSNP: rs1567426035
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002045256 SCV002292356 uncertain significance Bardet-Biedl syndrome 2022-03-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 211 of the BBS4 protein (p.Leu211Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BBS4-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: "Deleterious"; PolyPhen-2: "Possibly 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.
PreventionGenetics, part of Exact Sciences RCV003968683 SCV004779817 uncertain significance BBS4-related disorder 2024-02-12 criteria provided, single submitter clinical testing The BBS4 c.631C>T variant is predicted to result in the amino acid substitution p.Leu211Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% 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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