ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.864+1G>C

dbSNP: rs2151047618
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Total submissions: 3
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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 RCV001724848 SCV001950219 uncertain significance Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The c.864+1G>C variant in BBS4 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: . Based on this evidence we have classified this variant as a Variant of Uncertain Significance. If you have any questions about the classification please reach out to the Pierce Lab.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002227533 SCV002507055 uncertain significance Bardet-Biedl syndrome 4 2022-05-04 criteria provided, single submitter curation The heterozygous c.864+1G>C variant in BBS4 was identified by our study in the compound heterozygous state, along with another likely pathogenic variant, in 1 individual with Bardet-Biedl syndrome 4. The variant has not been previously reported in individuals with Bardet-Biedl syndrome 4 and was absent from large population studies. This variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the BBS4 gene is a moderately established disease mechanism in autosomal recessive Bardet-Biedl syndrome 4. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PVS1_supporting, PM3 (Richards 2015).
Baylor Genetics RCV002227533 SCV004214103 likely pathogenic Bardet-Biedl syndrome 4 2023-03-20 criteria provided, single submitter clinical testing

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