ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.2123C>T (p.Pro708Leu)

dbSNP: rs145071617
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001367802 SCV001564168 uncertain significance Charcot-Marie-Tooth disease type 4 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 571 of the FGD4 protein (p.Pro571Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs145071617, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with FGD4-related conditions. 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. 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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