Submissions for variant NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CFTR2	RCV000047069	SCV000245974	pathogenic	Cystic fibrosis	2017-03-17	reviewed by expert panel	research
CFTR-France	RCV000047069	SCV001169386	pathogenic	Cystic fibrosis	2018-01-29	criteria provided, single submitter	curation
Labcorp Genetics (formerly Invitae), Labcorp	RCV000047069	SCV001382861	pathogenic	Cystic fibrosis	2019-05-13	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant has been observed in individuals with CFTR-related conditions (PMID: 7508414, 23974870). ClinVar contains an entry for this variant (Variation ID: 53884). This variant is also known as 4218insT and c.4086_4087insT in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1363*) in the CFTR gene. It is expected to result in an absent or disrupted protein product.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000047069	SCV002571865	pathogenic	Cystic fibrosis	2022-08-08	criteria provided, single submitter	clinical testing	Variant summary: CFTR c.4086dupT (p.Lys1363X) 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. The variant was absent in 251270 control chromosomes. c.4086dupT has been reported in the literature in individuals affected with Cystic Fibrosis. These data indicate that the variant may be associated with disease. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Natera, Inc.	RCV001829611	SCV002075933	pathogenic	CFTR-related disorder	2017-03-17	no assertion criteria provided	clinical testing

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