ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1408G>A (p.Val470Met) (rs213950)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036517 SCV000060172 benign not specified 2008-01-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036517 SCV000110842 benign not specified 2017-09-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000036517 SCV000304471 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000007550 SCV000466513 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590475 SCV000696842 benign not provided 2016-03-29 criteria provided, single submitter clinical testing Variant Summary: The variant of interest causes a missense change with 4/4 in silico programs (SNPs&GO not captured here due to low reliability index) predict a "benign" outcome. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 58576/121288 (1/2 including 15242 homozygotes), which significantly exceeds the predicted maximum expected allele frequency for a pathogenic CFTR variant of 1/77. Therefore, suggesting that the variant of interest is a common polymorphism. In addition, multiple reputable databases/clinical laboratories cite the variant with a classification of "benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
GeneDx RCV000036517 SCV000714549 benign not specified 2017-12-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
OMIM RCV000007550 SCV000027751 benign Cystic fibrosis 1990-11-01 no assertion criteria provided literature only
Genetic Services Laboratory, University of Chicago RCV000036517 SCV000150654 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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