ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.818A>G (p.Asp273Gly)

gnomAD frequency: 0.00002  dbSNP: rs1264926096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701112 SCV000829895 uncertain significance Bardet-Biedl syndrome 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 273 of the BBS9 protein (p.Asp273Gly). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 578179). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002485725 SCV002798293 uncertain significance Bardet-Biedl syndrome 9 2022-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892560 SCV004717404 uncertain significance BBS9-related condition 2024-01-02 criteria provided, single submitter clinical testing The BBS9 c.818A>G variant is predicted to result in the amino acid substitution p.Asp273Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino 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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