Submissions for variant NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)

dbSNP: rs587777837

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000735922	SCV001235209	pathogenic	Bardet-Biedl syndrome	2019-12-07	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the BBS10 protein. Other variant(s) that disrupt this region (p.Va707*) have been determined to be pathogenic (PMID: 25982971, 22773737, 27486776, 20472660). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 16582908, 30614526). ClinVar contains an entry for this variant (Variation ID: 30817). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the BBS10 gene (p.Pro350Ilefs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 374 amino acids of the BBS10 protein.
Fulgent Genetics, Fulgent Genetics	RCV000023802	SCV002810990	pathogenic	Bardet-Biedl syndrome 10	2021-11-17	criteria provided, single submitter	clinical testing
OMIM	RCV000023802	SCV000045093	pathogenic	Bardet-Biedl syndrome 10	2010-12-01	no assertion criteria provided	literature only
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University	RCV000735922	SCV000839555	pathogenic	Bardet-Biedl syndrome	2018-09-15	no assertion criteria provided	provider interpretation