ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.619-1G>C (rs753234582)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001002882 SCV001220224 pathogenic Bardet-Biedl syndrome 2020-01-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the BBS5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs753234582, ExAC 0.002%). This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 21209035, Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS5 are known to be pathogenic (PMID: 15137946). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073435 SCV001238976 likely pathogenic Retinal dystrophy 2019-02-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090460 SCV001246022 pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195889 SCV001366313 pathogenic Hypertelorism; Obesity; Global developmental delay; Micrognathia; High palate; Almond-shaped palpebral fissure; Delayed speech and language development; Macrocephalus; Intellectual disability; Calcaneovalgus deformity; Severe global developmental delay; Retractile testis; Muscular hypotonia 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP2,PP3. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195902 SCV001366326 pathogenic Polydactyly; Obesity; Global developmental delay; Abnormal facial shape 2018-11-21 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196981 SCV001367616 pathogenic Central scotoma; Reduced visual acuity; Peripheral visual field loss; Metamorphopsia 2020-03-25 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. This variant was detected in heterozygous state.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002882 SCV001160915 pathogenic Bardet-Biedl syndrome 2019-06-23 no assertion criteria provided research

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