ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.601G>A (p.Val201Met) (rs138338446)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000725285 SCV000602985 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing
Counsyl RCV000666392 SCV000790677 uncertain significance Cystic fibrosis 2017-03-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725285 SCV000335701 uncertain significance not provided 2018-02-07 criteria provided, single submitter clinical testing
GeneDx RCV000725285 SCV000568548 uncertain significance not provided 2016-11-02 criteria provided, single submitter clinical testing The V201M variant in the CFTR gene has been reported previously as heterozygous in one child diagnosed with CF; no other variants in the CFTR gene were identified (Bernardino et al., 2000). The V201M variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V201M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Pathogenic missense variants in nearby residues (H199Y, P205S) have been reported in the Human Gene Mutation Database in association with CF (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret V201M as a variant of uncertain significance.
Mendelics RCV000666392 SCV000886151 likely pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000381189 SCV000601128 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000725285 SCV000889313 uncertain significance not provided 2018-06-08 criteria provided, single submitter clinical testing

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