ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.928A>G (p.Asn310Asp)

gnomAD frequency: 0.00011  dbSNP: rs369647403
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243221 SCV001416362 uncertain significance Bardet-Biedl syndrome 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 310 of the BBS9 protein (p.Asn310Asp). This variant is present in population databases (rs369647403, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS9-related conditions. ClinVar contains an entry for this variant (Variation ID: 968155). 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 BBS9 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.
GeneDx RCV001760274 SCV001999263 uncertain significance not provided 2019-10-31 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002491812 SCV002784373 uncertain significance Bardet-Biedl syndrome 9 2022-04-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003405443 SCV004114061 uncertain significance BBS9-related condition 2023-12-26 criteria provided, single submitter clinical testing The BBS9 c.928A>G variant is predicted to result in the amino acid substitution p.Asn310Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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