ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) (rs79031340)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056402 SCV000071539 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000056402 SCV000485226 pathogenic Cystic fibrosis 2016-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623802 SCV000741227 pathogenic Inborn genetic diseases 2014-06-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000760400 SCV000890273 pathogenic not provided 2018-12-28 criteria provided, single submitter clinical testing The G330X variant in the CFTR gene has been reported previously in an individual with cystic fibrosis (Macek et al., 1997). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The G330X variant is not observed in large population cohorts (Lek et al., 2016). We interpret G330X as a pathogenic variant.
Integrated Genetics/Laboratory Corporation of America RCV000780126 SCV000917170 pathogenic not specified 2018-09-20 criteria provided, single submitter clinical testing Variant summary: CFTR c.988G>T (p.Gly330X) 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 absent in 246048 control chromosomes (gnomAD). The variant,c.988G>T, has been reported in the literature in multiple individuals affected with Cystic Fibrosis (e.g. Macek 1997, Sosnay 2013, Dupuis 2015). 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. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and both laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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