ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2989-1G>A (rs397508470)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056376 SCV000071457 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000056376 SCV000220378 likely pathogenic Cystic fibrosis 2014-06-06 criteria provided, single submitter literature only
Mendelics RCV000056376 SCV000886245 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780171 SCV000917219 pathogenic not specified 2017-12-26 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2989-1G>A variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict a significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/245874 control chromosomes (gnomAD) at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant was found in multiple CF patients (Sosnay_2013, Behar_2017, Alibakhshi_2008). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic/likely pathogenic. Taken together, this variant is classified as pathogenic.

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