ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro) (rs397508435)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056371 SCV000071510 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000056371 SCV000487119 likely pathogenic Cystic fibrosis 2016-10-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000056371 SCV000696924 pathogenic Cystic fibrosis 2017-06-13 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2780T>C (p.Leu927Pro) variant involves the alteration of a highly conserved nucleotide and 5/5 in silico tools predict a damaging outcome. The deleterious effect of this change has been confirmed by functional studies where L927P was shown to have a reduce maturation level and severely affected Cl- transport. The variant is absent from the control population datasets of ExAC and gnomAD (~121324 and 216186 chrs tested) but was identified in multiple CF patients in compound heterozygosity with known pathogenic mutations. Multiple published reports and clinical diagnostic laboratories/reputable databases classified this variant as severe mutation/Pathogenic. Taking together, the variant has been classified as Pathogenic.
CFTR-France RCV000056371 SCV001169513 pathogenic Cystic fibrosis 2015-07-03 criteria provided, single submitter curation

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