Submissions for variant NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)

dbSNP: rs606231137

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000433738	SCV000511853	pathogenic	not provided	2016-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000709632	SCV000743768	pathogenic	Bardet-Biedl syndrome 1	2016-01-06	criteria provided, single submitter	clinical testing
Invitae	RCV000614851	SCV000832371	pathogenic	Bardet-Biedl syndrome	2024-01-19	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Lys626Argfs*22) 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 present in population databases (rs774006614, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with Bardet-Biedl syndrome (PMID: 16380913). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2662). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000002781	SCV002765131	pathogenic	Bardet-Biedl syndrome 9	2022-12-20	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000002781	SCV002811476	pathogenic	Bardet-Biedl syndrome 9	2022-02-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003421896	SCV004116747	pathogenic	BBS9-related condition	2023-12-08	criteria provided, single submitter	clinical testing	The BBS9 c.1877_1880delAACA variant is predicted to result in a frameshift and premature protein termination (p.Lys626Argfs*22). This variant has been reported in the homozygous and compound heterozygous states in individuals with Bardet-Biedl syndrome (Nishimura et al. 2005. PubMed ID: 16380913; Meyer et al. 2022. PubMed ID: 35112343). This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in BBS9 are expected to be pathogenic. Given the evidence, we interpret this variant as pathogenic.
Baylor Genetics	RCV000002781	SCV004214186	pathogenic	Bardet-Biedl syndrome 9	2023-10-28	criteria provided, single submitter	clinical testing
OMIM	RCV000002781	SCV000022939	pathogenic	Bardet-Biedl syndrome 9	2005-12-01	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000709632	SCV000734550	pathogenic	Bardet-Biedl syndrome 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000433738	SCV001809306	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000433738	SCV001955942	pathogenic	not provided		no assertion criteria provided	clinical testing