Submissions for variant NM_000492.3(CFTR):c.3022del (p.Val1008fs) (rs397508482)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000046758	SCV000221031	likely pathogenic	Cystic fibrosis	2015-01-15	criteria provided, single submitter	literature only
Integrated Genetics/Laboratory Corporation of America	RCV000781234	SCV000919139	likely pathogenic	not specified	2018-08-17	criteria provided, single submitter	clinical testing	Variant summary: CFTR c.3022delG (p.Val1008SerfsX15) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. p.Trp1089X, p.Tyr1092X, p.Ala1146fsX2). The variant was absent in 245950 control chromosomes. c.3022delG has been reported in the literature in individuals undergoing carrier screening. This report does not provide unequivocal conclusions about association of the variant with Cystic Fibrosis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.