Submissions for variant NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)

dbSNP: rs1401715737

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
New York Genome Center	RCV001839344	SCV002099348	likely pathogenic	Bardet-Biedl syndrome 9	2021-06-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003772362	SCV004652671	pathogenic	Bardet-Biedl syndrome	2023-08-17	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1342593). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 33138063). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg514*) 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).
CeGaT Center for Human Genetics Tuebingen	RCV004546674	SCV005041129	pathogenic	not provided	2024-04-01	criteria provided, single submitter	clinical testing	BBS9: PVS1, PM2, PM3:Supporting
Fulgent Genetics, Fulgent Genetics	RCV001839344	SCV005666993	pathogenic	Bardet-Biedl syndrome 9	2024-04-25	criteria provided, single submitter	clinical testing