ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.2485C>T (p.His829Tyr)

dbSNP: rs1778299963
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068042 SCV001233131 uncertain significance Charcot-Marie-Tooth disease type 4 2019-01-12 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 829 of the FIG4 protein (p.His829Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. 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 tolerated, 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 FIG4-related conditions. This variant is not present in population databases (ExAC no frequency).

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