ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2T>C (p.Met1Thr) (rs397508476)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000046751 SCV000220549 likely pathogenic Cystic fibrosis 2014-07-23 criteria provided, single submitter literature only
CFTR-France RCV000046751 SCV001169260 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Invitae RCV000046751 SCV001591502 pathogenic Cystic fibrosis 2020-08-30 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CFTR mRNA. The next in-frame methionine is located at codon 82. This variant is present in population databases (rs397508476, ExAC 0.01%). This variant has been observed to be homozygous in and in combination with another CFTR variant in several individuals affected with cystic fibrosis (PMID: 27086061, 22299590). ClinVar contains an entry for this variant (Variation ID: 53622). For these reasons, this variant has been classified as Pathogenic.

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