Submissions for variant NM_152384.3(BBS5):c.619-1G>C

gnomAD frequency: 0.00004  dbSNP: rs753234582

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001002882	SCV001220224	pathogenic	Bardet-Biedl syndrome	2024-01-02	criteria provided, single submitter	clinical testing	This sequence change affects an acceptor splice site in intron 7 of the BBS5 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS5 are known to be pathogenic (PMID: 15137946, 16877420, 26325687, 27708425, 28041643, 29806606). This variant is present in population databases (rs753234582, gnomAD 0.004%). Disruption of this splice site has been observed in individuals with Bardet-Biedl syndrome (PMID: 21209035; Invitae). ClinVar contains an entry for this variant (Variation ID: 812227). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics	RCV001073435	SCV001238976	likely pathogenic	Retinal dystrophy	2019-02-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001090460	SCV001246022	pathogenic	not provided	2021-11-01	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001195902	SCV001366326	pathogenic	Bardet-Biedl syndrome 5	2018-11-21	criteria provided, single submitter	clinical testing	This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP5. This variant was detected in homozygous state.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV001195902	SCV001976855	pathogenic	Bardet-Biedl syndrome 5	2021-10-05	criteria provided, single submitter	clinical testing	PVS1, PM2, PP3, PP5
Fulgent Genetics, Fulgent Genetics	RCV001195902	SCV002810415	pathogenic	Bardet-Biedl syndrome 5	2022-03-05	criteria provided, single submitter	clinical testing
GeneDx	RCV001090460	SCV003840696	uncertain significance	not provided	2022-09-12	criteria provided, single submitter	clinical testing	Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 25525159, 31456290, 21209035)
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001002882	SCV001160915	pathogenic	Bardet-Biedl syndrome	2019-06-23	no assertion criteria provided	research
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago	RCV003229005	SCV003926570	pathogenic	Bardet-Biedl syndrome 1	2023-05-10	no assertion criteria provided	research