ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3710G>A (p.Gly1237Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000735183 SCV000863386 uncertain significance not provided 2018-09-17 criteria provided, single submitter clinical testing
Invitae RCV000796931 SCV000936466 uncertain significance Cystic fibrosis 2018-10-29 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 1237 of the CFTR protein (p.Gly1237Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs751474685, ExAC 0.06%). This variant has not been reported in the literature in individuals with CFTR-related disease. 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 tolerated, 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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