ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.24T>C (p.Asp8=) (rs55848325)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173529 SCV000224650 benign not specified 2015-06-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000709651 SCV000743594 benign Bardet-Biedl syndrome 1 2015-02-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000709651 SCV000745742 likely benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000173529 SCV000918631 benign not specified 2018-09-10 criteria provided, single submitter clinical testing Variant summary: BBS1 c.24T>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0039 in 276810 control chromosomes in the gnomAD database, including 5 homozygotes. The observed variant frequency is approximately 4-fold of the estimated maximal expected allele frequency for a pathogenic variant in BBS1 causing Bardet-Biedl Syndrome phenotype (0.00094), strongly suggesting that the variant is benign. The variant, c.24T>C, has been reported in the literature in individuals affected with Bardet-Biedl Syndrome (Gerth_2008, Deveault_2011, Hichri_2005) but in some cases not all BBS genes were tested. 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 benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000226235 SCV000290794 benign Bardet-Biedl syndrome 2016-03-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000173529 SCV000314361 likely benign not specified criteria provided, single submitter clinical testing

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