ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.284GAA[2] (p.Arg97del)

dbSNP: rs751190536
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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 RCV001949977 SCV002203664 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-21 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant, c.290_292del, results in the deletion of 1 amino acid(s) of the SDCCAG8 protein (p.Arg97del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs751190536, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions.

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