ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs)

dbSNP: rs1555049194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513608 SCV000608597 likely pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199646 SCV001162410 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Invitae RCV001381854 SCV001580412 pathogenic Bardet-Biedl syndrome 2020-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly411Glufs*12) in the BBS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 444260). Loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255). For these reasons, this variant has been classified as Pathogenic.

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