ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1764G>A (p.Leu588=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003048616 SCV003353170 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-08-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (rs758498800, gnomAD 0.003%). This sequence change affects codon 588 of the SDCCAG8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SDCCAG8 protein. 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.

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