ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly)

dbSNP: rs772894742
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196254 SCV000255213 uncertain significance Bardet-Biedl syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 487 of the BBS12 protein (p.Arg487Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 216822). 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.
Counsyl RCV000665030 SCV000789085 uncertain significance Bardet-Biedl syndrome 12 2017-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165477 SCV003876911 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.1459A>G (p.R487G) alteration is located in exon 2 (coding exon 1) of the BBS12 gene. This alteration results from a A to G substitution at nucleotide position 1459, causing the arginine (R) at amino acid position 487 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003897430 SCV004717067 uncertain significance BBS12-related disorder 2024-02-29 criteria provided, single submitter clinical testing The BBS12 c.1459A>G variant is predicted to result in the amino acid substitution p.Arg487Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.050% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000665030 SCV001454980 uncertain significance Bardet-Biedl syndrome 12 2020-03-11 no assertion criteria provided clinical testing

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