ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.542T>C (p.Phe181Ser)

gnomAD frequency: 0.00006  dbSNP: rs758508869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701933 SCV000830757 uncertain significance Bardet-Biedl syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 181 of the BBS5 protein (p.Phe181Ser). This variant is present in population databases (rs758508869, gnomAD 0.04%). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 578815). 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.
PreventionGenetics, part of Exact Sciences RCV003403628 SCV004102944 uncertain significance BBS5-related condition 2023-12-07 criteria provided, single submitter clinical testing The BBS5 c.542T>C variant is predicted to result in the amino acid substitution p.Phe181Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.030% of alleles in individuals of East Asian 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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