ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)

gnomAD frequency: 0.00008  dbSNP: rs144833282
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039988 SCV001203540 uncertain significance Bardet-Biedl syndrome 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 136 of the BBS1 protein (p.Gln136Arg). This variant is present in population databases (rs144833282, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 838441). 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 BBS1 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.
Fulgent Genetics, Fulgent Genetics RCV001836072 SCV002816703 uncertain significance Bardet-Biedl syndrome 1 2021-12-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928673 SCV004742835 uncertain significance BBS1-related condition 2023-11-29 criteria provided, single submitter clinical testing The BBS1 c.407A>G variant is predicted to result in the amino acid substitution p.Gln136Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.077% of alleles in individuals of Ashkenazi Jewish descent in gnomAD, which is likely too frequent for a primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001836072 SCV002094724 uncertain significance Bardet-Biedl syndrome 1 2020-03-24 no assertion criteria provided clinical testing

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