ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.418G>A (p.Ala140Thr)

gnomAD frequency: 0.00003  dbSNP: rs762636391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994521 SCV001148111 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV002549875 SCV003493191 uncertain significance FGFR2-related craniosynostosis 2022-11-22 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 806578). This variant has not been reported in the literature in individuals affected with FGFR2-related conditions. This variant is present in population databases (rs762636391, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 140 of the FGFR2 protein (p.Ala140Thr). 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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