ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)

dbSNP: rs1555202687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669080 SCV000793783 likely pathogenic Bardet-Biedl syndrome 10 2017-08-30 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV000669080 SCV004047307 uncertain significance Bardet-Biedl syndrome 10 criteria provided, single submitter clinical testing The frame shift c.745_746insTA (p.Arg249LeufsTer11) variant in BBS10 has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has been reported to the ClinVar database as Likely pathogenic . The p.Arg249LeufsTer11 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. Loss of function variants have been previously reported to be disease causing. However since this variant is present in the last exon functional studies will be required to prove protein truncation. Hence the variant is classified as Uncertain Significance (VUS).

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