ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1112T>C (p.Val371Ala)

gnomAD frequency: 0.00011  dbSNP: rs138436479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036744 SCV001200122 uncertain significance Bardet-Biedl syndrome 2025-01-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 371 of the BBS9 protein (p.Val371Ala). This variant is present in population databases (rs138436479, gnomAD 0.03%). 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: 835777). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BBS9 protein function with a negative predictive value of 80%. 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 RCV005036306 SCV005666965 uncertain significance Bardet-Biedl syndrome 9 2024-05-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411961 SCV004109599 uncertain significance BBS9-related disorder 2024-02-20 no assertion criteria provided clinical testing The BBS9 c.1112T>C variant is predicted to result in the amino acid substitution p.Val371Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.034% 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818192 SCV005068983 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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