ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1413C>T (p.Leu471=) (rs3816492)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243070 SCV000314358 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000709661 SCV000373280 benign Bardet-Biedl syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000709661 SCV000677144 benign Bardet-Biedl syndrome 1 2017-06-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587805 SCV000699514 benign not provided 2016-11-18 criteria provided, single submitter clinical testing Variant summary: The BBS1 c.1413C>T (p.Leu471Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a polymorphism outcome for this variant along with 5/5 splice prediction tools predicting the variant not to have an impact on normal splicing. This variant was found in 24241/116022 control chromosomes (2812 homozygotes) at a frequency of 0.2089345, which greatly exceeds the estimated maximal expected allele frequency of a pathogenic BBS1 variant (0.0009449), suggesting this variant is likely a benign polymorphism. A clinical diagnostic laboratory ant at least one publication classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000369667 SCV001000099 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing

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