Submissions for variant NM_000492.4(CFTR):c.2825del (p.Ile942fs)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CFTR2	RCV000046696	SCV000245958	pathogenic	Cystic fibrosis	2017-03-17	reviewed by expert panel	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV000046696	SCV001583701	pathogenic	Cystic fibrosis	2023-09-10	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 53574). This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 26708955). This sequence change creates a premature translational stop signal (p.Ile942Thrfs*26) in the CFTR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000046696	SCV004100230	pathogenic	Cystic fibrosis	2023-09-04	criteria provided, single submitter	clinical testing	Variant summary: CFTR c.2825delT (p.Ile942ThrfsX26) 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 251410 control chromosomes. c.2825delT has been reported in the literature in individuals affected with Cystic Fibrosis (eg. Schrijver_2016, etc). The following publication have been ascertained in the context of this evaluation (PMID: 26708955). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics	RCV003474553	SCV004213490	pathogenic	Bronchiectasis with or without elevated sweat chloride 1	2023-06-12	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001831758	SCV002083549	pathogenic	CFTR-related disorder	2017-03-17	no assertion criteria provided	clinical testing

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