ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196148 SCV001366669 uncertain significance Yunis-Varon syndrome 2019-08-29 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Invitae RCV001239272 SCV001412130 uncertain significance Charcot-Marie-Tooth disease type 4 2019-10-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 673 of the FIG4 protein (p.Ile673Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is present in population databases (rs774499394, ExAC 0.001%). This variant has not been reported in the literature in individuals with FIG4-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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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