ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.427C>G (p.Leu143Val)

dbSNP: rs371179612
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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 RCV002045883 SCV002304565 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 143 of the SDCCAG8 protein (p.Leu143Val). This variant is present in population databases (rs371179612, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. 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. 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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