ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1366G>A (p.Glu456Lys)

dbSNP: rs1201375716
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000723250 SCV002507758 uncertain significance not provided 2021-04-09 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with FGFR3-related conditions. ClinVar contains an entry for this variant (Variation ID: 592064). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 456 of the FGFR3 protein (p.Glu456Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Gharavi Laboratory, Columbia University RCV000723250 SCV000854381 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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