ClinVar Miner

Submissions for variant NM_001134673.4(NFIA):c.655A>C (p.Thr219Pro)

gnomAD frequency: 0.00001  dbSNP: rs750817842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767341 SCV001991295 uncertain significance not provided 2019-06-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001767341 SCV002010699 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001767341 SCV005721217 uncertain significance not provided 2024-04-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 219 of the NFIA protein (p.Thr219Pro). This variant is present in population databases (rs750817842, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with NFIA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1306388). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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