ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.67+17C>G

gnomAD frequency: 0.00001  dbSNP: rs1311985140
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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 RCV002010292 SCV002279262 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-01-28 criteria provided, single submitter clinical testing 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 create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change falls in intron 1 of the SDCCAG8 gene. It does not directly change the encoded amino acid sequence of the SDCCAG8 protein.

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