ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) (rs1060503690)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466299 SCV000553782 pathogenic Bardet-Biedl syndrome 2017-03-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 414 (p.Glu414*) of the BBS1 gene. It is expected to result in an absent or disrupted protein product. 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.
Counsyl RCV000984148 SCV001132131 likely pathogenic Bardet-Biedl syndrome 1 2014-07-24 no assertion criteria provided clinical testing

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