ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1745-2A>G

gnomAD frequency: 0.00002  dbSNP: rs1442457872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002047017 SCV002108888 likely pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change affects an acceptor splice site in intron 14 of the SDCCAG8 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237, 22190896).

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