ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1421C>G (p.Pro474Arg)

gnomAD frequency: 0.00001  dbSNP: rs771018739
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233397 SCV001405988 uncertain significance Bardet-Biedl syndrome 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 474 of the BBS7 protein (p.Pro474Arg). This variant is present in population databases (rs771018739, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with BBS7-related conditions. ClinVar contains an entry for this variant (Variation ID: 959957). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BBS7 protein function. 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.

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