ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.197G>A (p.Arg66Lys)

gnomAD frequency: 0.00018  dbSNP: rs200250398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001897184 SCV002157231 uncertain significance Bardet-Biedl syndrome 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 66 of the BBS5 protein (p.Arg66Lys). This variant is present in population databases (rs200250398, gnomAD 0.03%). 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: 1381795). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BBS5 protein function with a negative predictive value of 80%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV005023360 SCV005654431 uncertain significance Bardet-Biedl syndrome 5 2024-06-24 criteria provided, single submitter clinical testing

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