ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln)

gnomAD frequency: 0.00001  dbSNP: rs772235333
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000436972 SCV000511052 uncertain significance not provided 2016-06-14 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001233127 SCV001405709 uncertain significance Bardet-Biedl syndrome 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 393 of the BBS1 protein (p.Arg393Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs772235333, ExAC 0.01%). 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: 377001). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Natera, Inc. RCV001828395 SCV002094759 uncertain significance Bardet-Biedl syndrome 1 2019-10-28 no assertion criteria provided clinical testing

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