ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)

gnomAD frequency: 0.00001  dbSNP: rs771456483
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331784 SCV001523897 likely pathogenic Bardet-Biedl syndrome 12 2024-01-01 criteria provided, single submitter clinical testing
DBGen Ocular Genomics RCV001587350 SCV001816048 uncertain significance Retinitis pigmentosa 2021-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871824 SCV002163646 likely pathogenic Bardet-Biedl syndrome 2023-07-12 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BBS12 protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1030269). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 32448990). This variant is present in population databases (rs771456483, gnomAD 0.002%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 426 of the BBS12 protein (p.Cys426Arg).
Fulgent Genetics, Fulgent Genetics RCV001331784 SCV002784543 uncertain significance Bardet-Biedl syndrome 12 2021-09-15 criteria provided, single submitter clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV001871824 SCV003915910 uncertain significance Bardet-Biedl syndrome 2023-06-02 criteria provided, single submitter research This variant was observed in compound heterozygosity with variant NC_000004.11:g.123664965del

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