ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3139+1delG (rs780546355)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411144 SCV000486231 likely pathogenic Cystic fibrosis 2016-04-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590394 SCV000696948 likely pathogenic Congenital bilateral absence of the vas deferens 2016-11-09 criteria provided, single submitter clinical testing Variant summary: The CFTR c.3139+1delG variant involves the alteration of a conserved nucleotide located at the intron/exon boundary. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/120398 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). One clinical lab classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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