ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.404A>T (p.Glu135Val)

gnomAD frequency: 0.00001  dbSNP: rs747774826
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001935185 SCV002174929 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 135 of the SDCCAG8 protein (p.Glu135Val). This variant is present in population databases (rs747774826, gnomAD 0.04%). 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: 1405495). 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) performed at Invitae indicates that this missense variant is expected to disrupt 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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