Submissions for variant NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)

gnomAD frequency: 0.00001  dbSNP: rs121918327

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000538405	SCV000636538	pathogenic	Bardet-Biedl syndrome	2023-09-10	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg355*) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 356 amino acid(s) of the BBS12 protein. This variant is present in population databases (rs121918327, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 17160889, 23591405). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1147). For these reasons, this variant has been classified as Pathogenic.
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	RCV000001206	SCV000680151	pathogenic	Bardet-Biedl syndrome 12	2017-09-08	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000626780	SCV000747483	pathogenic	Polydactyly, postaxial, type A1; Abnormal cardiovascular system morphology; Visual impairment; Inability to walk	2017-01-01	criteria provided, single submitter	clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	RCV000001206	SCV001156389	pathogenic	Bardet-Biedl syndrome 12	2019-02-01	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000001206	SCV001370443	pathogenic	Bardet-Biedl syndrome 12	2019-03-20	criteria provided, single submitter	clinical testing	This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5.
Fulgent Genetics, Fulgent Genetics	RCV000001206	SCV002814272	pathogenic	Bardet-Biedl syndrome 12	2022-04-21	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000001206	SCV004211673	pathogenic	Bardet-Biedl syndrome 12	2023-09-09	criteria provided, single submitter	clinical testing
OMIM	RCV000001206	SCV000021356	pathogenic	Bardet-Biedl syndrome 12	2007-01-01	no assertion criteria provided	literature only
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University	RCV000538405	SCV000839573	pathogenic	Bardet-Biedl syndrome	2018-09-15	no assertion criteria provided	provider interpretation
Counsyl	RCV000001206	SCV001132342	pathogenic	Bardet-Biedl syndrome 12	2017-11-27	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000001206	SCV001462013	pathogenic	Bardet-Biedl syndrome 12	2020-09-16	no assertion criteria provided	clinical testing
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago	RCV003228891	SCV003926581	pathogenic	Bardet-Biedl syndrome 1	2023-05-10	no assertion criteria provided	research