ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1092del (p.Glu365fs) (rs770218590)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000675164 SCV000447409 uncertain significance Bardet-Biedl syndrome 12 2017-04-28 criteria provided, single submitter clinical testing The BBS12 c.1092delA (p.Glu365ArgfsTer18) variant results in a frameshift and is predicted to cause a premature termination of the protein. This variant has been reported in a compound heterozygous state in one individual with Bardet-Biedl syndrome (Stoetzel et al. 2007). Frequency information is not available from the 1000 Genomes Project, the Exome Sequencing Project or the Exome Aggregation Consortium, even though the variant lies in a region of good sequence coverage, suggesting that it is a rare variant. Due to the potential impact of frameshift variants and the limited information available, the p.Glu365ArgfsTer18 variant is classified as a variant of unknown significance but suspicious for pathogenicity for Bardet-Biedl syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Counsyl RCV000675164 SCV000800781 pathogenic Bardet-Biedl syndrome 12 2017-08-08 no assertion criteria provided clinical testing

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