Submissions for variant NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)

gnomAD frequency: 0.00001  dbSNP: rs948418225

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001388265	SCV001589189	pathogenic	Bardet-Biedl syndrome	2024-01-11	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln597*) in the BBS9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS9 are known to be pathogenic (PMID: 16380913, 20177705). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Bardet-Biedl syndrome (PMID: 24746959, 27708425). ClinVar contains an entry for this variant (Variation ID: 1074830). For these reasons, this variant has been classified as Pathogenic.
Kariminejad - Najmabadi Pathology & Genetics Center	RCV001814316	SCV001755440	pathogenic	Abnormality of the eye	2021-07-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488210	SCV002777096	pathogenic	Bardet-Biedl syndrome 9	2021-12-16	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV002488210	SCV004214193	pathogenic	Bardet-Biedl syndrome 9	2023-09-26	criteria provided, single submitter	clinical testing