ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.871G>A (p.Gly291Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002932945 SCV003264127 uncertain significance Bardet-Biedl syndrome 2022-03-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 291 of the BBS2 protein (p.Gly291Ser). This variant is present in population databases (rs528685215, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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 RCV005019471 SCV005644046 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-02-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733548 SCV005359710 uncertain significance BBS2-related disorder 2024-05-31 no assertion criteria provided clinical testing The BBS2 c.871G>A variant is predicted to result in the amino acid substitution p.Gly291Ser. This variant was found in the heterozygous state in an individual with congenital cataract and microphthalmia, although no further evidence was provided to determine its pathogenicity (Wang et al. 2019. PubMed ID: 31106028, Table S2). This variant is reported in 0.15% 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.

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