ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1068+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002651436 SCV003523961 likely pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-07-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 9 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). Disruption of this splice site has been observed in individual(s) with nephronophthisis-related ciliopathy (PMID: 20835237). ClinVar contains an entry for this variant (Variation ID: 2203016). 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 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.

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