ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1157G>A (p.Gly386Asp)

gnomAD frequency: 0.00004  dbSNP: rs143607861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001970285 SCV002257379 uncertain significance Bardet-Biedl syndrome 2023-08-10 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 BBS4 protein function. ClinVar contains an entry for this variant (Variation ID: 1466967). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. This variant is present in population databases (rs143607861, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 386 of the BBS4 protein (p.Gly386Asp).
PreventionGenetics, part of Exact Sciences RCV003401985 SCV004118775 uncertain significance BBS4-related disorder 2023-03-19 criteria provided, single submitter clinical testing The BBS4 c.1157G>A variant is predicted to result in the amino acid substitution p.Gly386Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-73028216-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005002734 SCV005630906 uncertain significance Bardet-Biedl syndrome 4 2024-06-10 criteria provided, single submitter clinical testing

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