ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter) (rs121908765)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056384 SCV000087511 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790735 SCV000227899 pathogenic not provided 2013-01-03 criteria provided, single submitter clinical testing
Counsyl RCV000056384 SCV000485430 pathogenic Cystic fibrosis 2015-12-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781267 SCV000919179 pathogenic not specified 2018-05-04 criteria provided, single submitter clinical testing Variant summary: CFTR c.3612G>A (p.Trp1204X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was observed with an allele frequency of 1.2e-05 in 245006 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in CFTR causing Cystic Fibrosis (1.2e-05 vs 0.013), allowing no conclusion about variant significance. The variant, c.3612G>A, has been reported in the literature in multiple individuals affected with Cystic Fibrosis (Sosnay_2014). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Multiple ClinVar submssions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as "pathogenic." Based on the evidence outlined above, the variant was classified as pathogenic.

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