ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.396G>C (p.Gln132His)

dbSNP: rs10255104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044232 SCV001208019 uncertain significance Bardet-Biedl syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 132 of the BBS9 protein (p.Gln132His). This variant is present in population databases (rs10255104, gnomAD 0.04%). 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: 841915). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV002479275 SCV002781088 uncertain significance Bardet-Biedl syndrome 9 2022-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396648 SCV004112696 uncertain significance BBS9-related condition 2023-06-13 criteria provided, single submitter clinical testing The BBS9 c.396G>C variant is predicted to result in the amino acid substitution p.Gln132His. This variant has been reported in a family where individuals presented with Bardet-Biedl syndrome. However, two additional variants were identified in BBS1 and segregation information was not provided (Family J118, Chen et al. 2011. PubMed ID: 21642631). This variant is reported in 0.042% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-33217157-G-C). 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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