ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.432+5A>G

gnomAD frequency: 0.00021  dbSNP: rs373923317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055407 SCV001219795 uncertain significance Bardet-Biedl syndrome 2022-10-05 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the BBS1 gene. It does not directly change the encoded amino acid sequence of the BBS1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs373923317, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 851085). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003963017 SCV004779872 likely benign BBS1-related condition 2020-10-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274033 SCV001457738 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing

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