ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1826A>T (p.His609Leu) (rs397508310)

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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 RCV000778818 SCV000915205 uncertain significance Cystic fibrosis 2017-04-28 criteria provided, single submitter clinical testing The CFTR c.1826A>T (p.His609Leu) variant is a missense variant that has been reported in a compound heterozygous state with an intronic variant in one individual with congenital bilateral absence of the vas deferens (CBAVD) (Steiner et al. 2011). The p.His609Leu variant was absent from 319 controls. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium despite being found in a region of good sequencing coverage. Therefore, it is presumed to be rare. Based on the limited evidence, the p.His609Leu variant is classified as a variant of unknown significance but suspicious for pathogenicity for CFTR-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507939 SCV000601062 likely pathogenic not provided 2016-12-27 criteria provided, single submitter clinical testing

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