ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) (rs121909021)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000728852 SCV000603017 pathogenic not provided 2017-12-17 criteria provided, single submitter clinical testing
Counsyl RCV000007592 SCV000800525 uncertain significance Cystic fibrosis 2017-05-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728852 SCV000856470 uncertain significance not provided 2017-08-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780115 SCV000917159 likely pathogenic not specified 2018-01-31 criteria provided, single submitter clinical testing Variant summary: CFTR c.1046C>T (p.Ala349Val) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 277408 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in CFTR causing Non-classic Cystic Fibrosis (0.00011 vs 0.013), allowing no conclusion about variant significance. The variant has been observed in multiple CF and CBAVD patients (in at least 3 patients in trans with a known pathogenic variant)(Schlegel_1996, Castaldo_2005, Lucarelli_2006, Wooldridge_2015). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory classified the variant as pathogenic, without evidence for independent evaluation. Based on the evidence outlined above, the variant was classified as likely pathogenic.
OMIM RCV000007592 SCV000027793 pathogenic Cystic fibrosis 2016-12-08 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000728852 SCV000888065 likely pathogenic not provided 2017-09-11 criteria provided, single submitter clinical testing

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