ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)

gnomAD frequency: 0.00001  dbSNP: rs752533681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214598 SCV001386284 uncertain significance Bardet-Biedl syndrome 2022-04-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 27 of the BBS12 protein (p.Arg27Gly). This variant is present in population databases (rs752533681, gnomAD 0.02%). 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: 944241). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV001828710 SCV002814855 uncertain significance Bardet-Biedl syndrome 12 2022-04-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828710 SCV002082472 uncertain significance Bardet-Biedl syndrome 12 2020-02-26 no assertion criteria provided clinical testing

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