ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.941-1G>T

dbSNP: rs777234811
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672782 SCV000797922 likely pathogenic Bardet-Biedl syndrome 2 2018-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861814 SCV002228418 pathogenic Bardet-Biedl syndrome 2022-08-09 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. ClinVar contains an entry for this variant (Variation ID: 556737). Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (PMID: 30902645). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs777234811, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 8 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).
Baylor Genetics RCV000672782 SCV004214044 pathogenic Bardet-Biedl syndrome 2 2023-03-23 criteria provided, single submitter clinical testing

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