ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.2139_2141dup (p.Cys713_Ter714insCys)

dbSNP: rs1268199421
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001872587 SCV002118452 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-08-17 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the SDCCAG8 mRNA. It is expected to extend the length of the SDCCAG8 protein by 1 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1360829). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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