ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1072del (p.Tyr358fs)

dbSNP: rs1057516533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000411561 SCV000553781 pathogenic Bardet-Biedl syndrome 2016-12-15 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 11 of the BBS1 mRNA (c.1072delT), causing a frameshift at codon 358. This creates a premature translational stop signal (p.Tyr358Ilefs*16) and is expected to result in an absent or disrupted protein product.
Counsyl RCV000709659 SCV000485836 likely pathogenic Bardet-Biedl syndrome 1 2016-02-19 no assertion criteria provided clinical testing

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