ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2490+14G>T (rs573016418)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506735 SCV000601075 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586509 SCV000696900 uncertain significance not provided 2017-07-06 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2490+14G>T variant involves the alteration of a non-conserved intronic nucleotide. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 6/112300 control chromosomes at a frequency of 0.0000534, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant has been reported in a NBS study without information on carriers phenotype other than potentially high level of immunoreactive trypsinogen (IRT). The variant of interest has not, to our knowledge, been reported in affected individuals via reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as VUS.

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