ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.951+1G>A (rs746875134)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410778 SCV000486351 likely pathogenic Bardet-Biedl syndrome 1 2016-05-20 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195826 SCV001366246 pathogenic Atrioventricular septal defect; Global developmental delay; Microcephaly; Postaxial hand polydactyly; Postaxial foot polydactyly 2018-11-15 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.
Integrated Genetics/Laboratory Corporation of America RCV000735921 SCV001431953 pathogenic Bardet-Biedl syndrome 2020-08-17 criteria provided, single submitter clinical testing Variant summary: BBS1 c.951+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8e-06 in 251330 control chromosomes. c.951+1G>A has been reported in the literature in multiple individuals affected with features of Bardet-Biedl Syndrome (example, Fauser_2003, Redin_2012, Forsyth_2017, Komazec_2019). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic (n=3)/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Laboratory of Medical Genetics, INSERM RCV000735921 SCV000839554 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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