ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) (rs77409459)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007614 SCV000071531 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506655 SCV000603069 pathogenic not specified 2017-03-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000007614 SCV000696815 pathogenic Cystic fibrosis 2017-02-23 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1013C>T (p.Thr338Ile) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 5/121336 control chromosomes at a frequency of 0.0000412, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant has been reported in numerous affected individuals in the literature, and has been shown to result in <10% chloride conductance compared to WT. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
CFTR-France RCV001009472 SCV001169567 pathogenic CFTR-related disorders 2018-01-29 criteria provided, single submitter curation
Myriad Women's Health, Inc. RCV000007614 SCV001193917 pathogenic Cystic fibrosis 2019-12-07 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.1013C>T(T338I) is classified as pathogenic in the context of cystic fibrosis and is associated with the non-classic form of disease. Sources cited for classification include the following: PMID 18456578 and 23974870. Classification of NM_000492.3(CFTR):c.1013C>T(T338I) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Johns Hopkins Genomics,Johns Hopkins University RCV000007614 SCV001425425 pathogenic Cystic fibrosis 2020-04-24 criteria provided, single submitter clinical testing Disease-causing CFTR variant. See www.CFTR2.org for phenotype information.
OMIM RCV000007614 SCV000027815 pathogenic Cystic fibrosis 1995-08-01 no assertion criteria provided literature only

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