ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.626G>A (p.Gly209Glu)

gnomAD frequency: 0.00003  dbSNP: rs372822977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819631 SCV000960302 pathogenic Bardet-Biedl syndrome 2023-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 BBS4 protein function. ClinVar contains an entry for this variant (Variation ID: 662070). This missense change has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 17558852; Invitae). This variant is present in population databases (rs372822977, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 209 of the BBS4 protein (p.Gly209Glu).

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