ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1610T>G (p.Leu537Arg)

dbSNP: rs1032332223
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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 RCV001318169 SCV001508861 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-06-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1018813). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 537 of the SDCCAG8 protein (p.Leu537Arg).

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