ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg)

gnomAD frequency: 0.00002  dbSNP: rs149473225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001314124 SCV001504640 uncertain significance Bardet-Biedl syndrome 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 627 of the BBS2 protein (p.Gly627Arg). This variant is present in population databases (rs149473225, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1015292). 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 arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002486226 SCV002789689 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830279 SCV002089259 uncertain significance Bardet-Biedl syndrome 2 2020-01-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733246 SCV005366176 uncertain significance BBS2-related disorder 2024-09-23 no assertion criteria provided clinical testing The BBS2 c.1879G>A variant is predicted to result in the amino acid substitution p.Gly627Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0093% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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