Submissions for variant NM_033028.5(BBS4):c.1107-10_1107-7del

dbSNP: rs770577174

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research	RCV001199439	SCV001162422	pathogenic	Retinitis pigmentosa	2020-01-09	criteria provided, single submitter	research
Blueprint Genetics	RCV001073390	SCV001238931	uncertain significance	Retinal dystrophy	2019-01-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002549225	SCV003024277	uncertain significance	Bardet-Biedl syndrome	2022-08-16	criteria provided, single submitter	clinical testing	This sequence change falls in intron 13 of the BBS4 gene. It does not directly change the encoded amino acid sequence of the BBS4 protein. This variant is present in population databases (rs770577174, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 813022). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001073390	SCV005072806	likely pathogenic	Retinal dystrophy	2022-01-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004749584	SCV005363169	likely benign	BBS4-related disorder	2024-08-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).