ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)

gnomAD frequency: 0.00009  dbSNP: rs376531209
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055603 SCV001220003 uncertain significance Bardet-Biedl syndrome 2021-11-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 487 of the BBS12 protein (p.Arg487Lys). This variant is present in population databases (rs376531209, gnomAD 0.03%). 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: 851247). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Baylor Genetics RCV001337019 SCV001530576 uncertain significance Bardet-Biedl syndrome 12 2018-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001337019 SCV002775838 uncertain significance Bardet-Biedl syndrome 12 2021-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554388 SCV003758272 uncertain significance Inborn genetic diseases 2022-07-14 criteria provided, single submitter clinical testing The c.1460G>A (p.R487K) alteration is located in exon 2 (coding exon 1) of the BBS12 gene. This alteration results from a G to A substitution at nucleotide position 1460, causing the arginine (R) at amino acid position 487 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003938423 SCV004747122 uncertain significance BBS12-related condition 2023-12-29 criteria provided, single submitter clinical testing The BBS12 c.1460G>A variant is predicted to result in the amino acid substitution p.Arg487Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.035% 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.
Natera, Inc. RCV001337019 SCV002084738 uncertain significance Bardet-Biedl syndrome 12 2020-08-10 no assertion criteria provided clinical testing

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