ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.17dup (p.Ser7fs) (rs1166022838)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470099 SCV000553777 pathogenic Bardet-Biedl syndrome 2016-05-26 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 1 of the BBS1 mRNA (c.17dupC), causing a frameshift at codon 7. This creates a premature translational stop signal (p.Ser7Ilefs*9) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in BBS1 are known to be pathogenic (PMID: 12118255). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075560 SCV001241187 likely pathogenic Retinal dystrophy 2019-01-03 criteria provided, single submitter clinical testing
Counsyl RCV000984150 SCV001132133 likely pathogenic Bardet-Biedl syndrome 1 2015-09-22 no assertion criteria provided clinical testing

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