ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1691T>C (p.Val564Ala)

gnomAD frequency: 0.00001  dbSNP: rs1463083357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207679 SCV001379042 uncertain significance Bardet-Biedl syndrome 2022-01-27 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 564 of the BBS7 protein (p.Val564Ala). This variant is not present in population databases (gnomAD no frequency). 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 938459). This variant has not been reported in the literature in individuals affected with BBS7-related conditions.

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