ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1069-8C>T

gnomAD frequency: 0.00001  dbSNP: rs752672598
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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 RCV001967226 SCV002206341 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-09-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs752672598, ExAC 0.003%). 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This sequence change falls in intron 9 of the SDCCAG8 gene. It does not directly change the encoded amino acid sequence of the SDCCAG8 protein.

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