ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1691A>G (p.Glu564Gly)

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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 RCV003787310 SCV004576322 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 564 of the SDCCAG8 protein (p.Glu564Gly). This variant is present in population databases (rs762947754, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SDCCAG8 protein function. 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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