ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.307-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1460888769
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804204 SCV000944100 likely pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-05-22 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 649302). Disruption of this splice site has been observed in individual(s) with Senior-Loken syndrome (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change affects an acceptor splice site in intron 3 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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