ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) (rs397508395)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000577717 SCV000886156 likely pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Invitae RCV000577717 SCV001577030 likely pathogenic Cystic fibrosis 2020-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 851 of the CFTR protein (p.Arg851Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of CFTR-related disease (PMID: 27086061, 9598638, 20167849). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 53511). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C2). 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. 5
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577717 SCV000679408 not provided Cystic fibrosis no assertion provided literature only

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