ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) (rs121918327)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538405 SCV000636538 pathogenic Bardet-Biedl syndrome 2019-11-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the BBS12 mRNA at codon 355 (p.Arg355*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 356 amino acids of the BBS12 protein. This variant is present in population databases (rs121918327, ExAC 0.01%). This variant has been reported to segregate with Bardet-Biedl syndrome in two families (PMID: 17160889). In these families, the variant was homozygous in all three affected individuals while both sets of consanguineous parents were heterozygous carriers. In addition, seven unaffected siblings from these families were also tested and CN517202 were homozygous for this variant. This variant has also been observed in a sporadic Bardet-Biedl syndrome individual who carried a second pathogenic variant (p.Gln300*) (PMID: 23591405). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics,Klinikum rechts der Isar 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 Postaxial polydactyly type A1; Abnormality of 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 RCV001196959 SCV001367593 likely pathogenic Cerebellar ataxia; Seizures; Psychomotor retardation 2020-02-18 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197284 SCV001367931 pathogenic Abnormality of cardiovascular system morphology; Visual impairment; Inability to walk; Postaxial polydactyly 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP4. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197844 SCV001368624 pathogenic Neurodevelopmental disorder 2019-03-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PM4,PP3,. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199350 SCV001370443 pathogenic Polydactyly; Micrognathia; Polycystic kidney dysplasia; Abnormality of the penis; Muscular hypotonia 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in hemizygous state.
OMIM RCV000001206 SCV000021356 pathogenic Bardet-Biedl syndrome 12 2007-01-01 no assertion criteria provided literature only
Laboratory of Medical Genetics, INSERM 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

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