ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) (rs121909012)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007561 SCV000071556 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000007561 SCV000220911 likely pathogenic Cystic fibrosis 2014-11-24 criteria provided, single submitter literature only
Mendelics RCV000007561 SCV000886220 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004481 SCV001163526 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV000007561 SCV001169496 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Invitae RCV000007561 SCV001586222 pathogenic Cystic fibrosis 2019-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg851*) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121909012, ExAC 0.01%). This variant has been observed in affected with congenital bilateral absence of vas deferens (PMID: 22483971). ClinVar contains an entry for this variant (Variation ID: 7141). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 23065710). Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007561 SCV000027762 pathogenic Cystic fibrosis 1991-11-01 no assertion criteria provided literature only

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