Submissions for variant NM_024685.4(BBS10):c.39_46del (p.Ala14fs)

dbSNP: rs1555202806

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000622924	SCV000741991	pathogenic	Inborn genetic diseases	2016-12-05	criteria provided, single submitter	clinical testing
Invitae	RCV000810149	SCV000950339	pathogenic	Bardet-Biedl syndrome	2023-08-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ala14Glyfs*79) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 710 amino acid(s) of the BBS10 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 30335236). ClinVar contains an entry for this variant (Variation ID: 521411). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the BBS10 protein in which other variant(s) (p.Cys91Leufs*5) have been determined to be pathogenic (PMID: 16582908, 20805367, 27385962). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
AiLife Diagnostics, AiLife Diagnostics	RCV002223890	SCV002503287	pathogenic	not provided	2021-06-16	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001834975	SCV004217459	pathogenic	Bardet-Biedl syndrome 10	2023-04-17	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001834975	SCV002091799	pathogenic	Bardet-Biedl syndrome 10	2021-03-21	no assertion criteria provided	clinical testing