ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.296C>T (p.Pro99Leu) (rs397508467)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000577122 SCV000924243 pathogenic Cystic fibrosis 2017-12-08 reviewed by expert panel research
CFTR-France RCV001009535 SCV001169630 pathogenic Cystic fibrosis; CFTR-related disorders 2018-03-09 criteria provided, single submitter curation the variant causes a phenotype but regarding our data, we can't formally attribute it to CF, CFTR-RD or both
Invitae RCV000577122 SCV001576101 likely pathogenic Cystic fibrosis 2020-01-31 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 99 of the CFTR protein (p.Pro99Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs397508467, ExAC 0.003%). This variant has been observed in individual(s) with cystic fibrosis (PMID: 11732487, 14872121). ClinVar contains an entry for this variant (Variation ID: 53610). This variant has been reported to affect CFTR protein function (PMID: 29805046, 866 3008). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577122 SCV000679420 not provided Cystic fibrosis no assertion provided literature only

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