ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.534+1G>T (rs773862084)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669469 SCV000794226 likely pathogenic Bardet-Biedl syndrome 2 2017-09-20 criteria provided, single submitter clinical testing
Invitae RCV000694960 SCV000823431 pathogenic Bardet-Biedl syndrome 2019-09-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the BBS2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs773862084, ExAC 0.2%). This variant has not been reported in the literature in individuals with BBS2-related disease. However, it has been observed in combination with another BBS2 variant in an individual with clinical features consistent with Bardet-Biedl syndrome (Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000762968 SCV000893409 pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2018-10-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075332 SCV001240950 likely pathogenic Retinal dystrophy 2018-02-20 criteria provided, single submitter clinical testing

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