ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2245C>T (p.Leu749=) (rs151235408)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586139 SCV000883595 likely benign not provided 2017-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586139 SCV000703406 uncertain significance not provided 2017-08-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586139 SCV000696891 likely benign not provided 2016-04-20 criteria provided, single submitter clinical testing Variant summary: The variant affects a conserved nucleotide and results in a synonymous mutation. 5/5 in silico tools predict the variant not to have an impact on splicing while mutation taster predicts the variant to be disease causing. It was predominantly observed in the Non-Finnish European subcohort of the ExAC project at an allele frequency of 0.096% which does not exceed the maximal expected allele frequency of a disease causing CFTR allele (1.3%). It has been reported in patients with wide spectrum of CFTR-related disorders (CF, CBAVD, asthma and COPD) as well as in healthy population and often reported as polymorphism. In one CBAVD patient, this variant was found in cis with R764X (Pallares-Ruiz_1999). In addition, according to Bombieri, it does not lead to exon skipping, suggesting it is indeed not pathogenic. Considering all evidence, the variant was classified as Likely Benign.
Invitae RCV000550130 SCV000625731 likely benign Cystic fibrosis 2017-11-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247513 SCV000304478 likely benign not specified criteria provided, single submitter clinical testing

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