ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.662T>C (p.Leu221Pro)

dbSNP: rs1597020018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001005004 SCV001164565 uncertain significance Retinitis pigmentosa 74 2018-12-03 criteria provided, single submitter research The heterozygous p.Leu221Pro variant in BBS2 was identified by our study in the compound heterozygous state, with a likely pathogenic variant, in one individual with retinitis pigmentosa. The presence of this variant in combination with a likely pathogenic variant increases the likelihood that the p.Leu221Pro variant is pathogenic. The p.Leu221Pro variant in BBS2 has not been previously reported in individuals with Retinitis Pigmentosa and was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinial significance of the p.Leu221Pro variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3, PM3_Supporting (Richards 2015).
Invitae RCV001862747 SCV002260833 uncertain significance Bardet-Biedl syndrome 2022-03-09 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 221 of the BBS2 protein (p.Leu221Pro). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 814000). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 20177705). This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV002489516 SCV002800904 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-10-28 criteria provided, single submitter clinical testing
New York Genome Center RCV002489516 SCV003925447 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-04-06 criteria provided, single submitter clinical testing

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