ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3983T>C (p.Ile1328Thr) (rs115762793)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507454 SCV000601113 uncertain significance not specified 2016-08-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723504 SCV000700500 uncertain significance not provided 2017-02-17 criteria provided, single submitter clinical testing
Invitae RCV000804416 SCV000944327 uncertain significance Cystic fibrosis 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1328 of the CFTR protein (p.Ile1328Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs115762793, ExAC 0.01%). This variant has been observed in an individual with an inconclusive diagnosis of cystic fibrosis (CF) via newborn screening (PMID: 25963003). ClinVar contains an entry for this variant (Variation ID: 439080). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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