ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.717+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1047075022
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668445 SCV000793050 likely pathogenic Bardet-Biedl syndrome 2 2017-08-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784253 SCV002024473 pathogenic not provided 2019-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668445 SCV004214065 pathogenic Bardet-Biedl syndrome 2 2022-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003523007 SCV004297728 pathogenic Bardet-Biedl syndrome 2023-12-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the BBS2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (no rsID available, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 28717663). ClinVar contains an entry for this variant (Variation ID: 553071). Studies have shown that disruption of this splice site results in skipping of exon 6, but is expected to preserve the integrity of the reading-frame (PMID: 28717663). This variant disrupts a region of the BBS2 protein in which other variant(s) (p.Leu221Pro) have been observed in individuals with BBS2-related conditions (PMID: 20177705). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005019126 SCV005644059 pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-03-08 criteria provided, single submitter clinical testing

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