ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.866A>G (p.His289Arg)

gnomAD frequency: 0.00003  dbSNP: rs147807589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001967148 SCV002198186 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-10-04 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1429066). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (rs147807589, gnomAD 0.02%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 289 of the SDCCAG8 protein (p.His289Arg).

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