ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1498C>A (p.Leu500Met)

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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 RCV002610083 SCV002963545 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-09-27 criteria provided, single submitter clinical testing This variant is present in population databases (rs750763148, gnomAD 0.003%). 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. 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 not expected to disrupt SDCCAG8 protein function. 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 methionine, which is neutral and non-polar, at codon 500 of the SDCCAG8 protein (p.Leu500Met).

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