ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003018640 SCV003312842 pathogenic Bardet-Biedl syndrome 2022-05-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Studies have shown that disruption of this splice site alters BBS2 gene expression (PMID: 28717663). Disruption of this splice site has been observed in individual(s) with clinical features of BBS2-related conditions (PMID: 28717663). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 6 of the BBS2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167).
Fulgent Genetics, Fulgent Genetics RCV005019559 SCV005644057 likely pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-04-24 criteria provided, single submitter clinical testing

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