ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala)

gnomAD frequency: 0.00002  dbSNP: rs766031746
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000395800 SCV000340682 uncertain significance not provided 2016-04-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000654166 SCV000776056 uncertain significance Charcot-Marie-Tooth disease type 4 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 705 of the FIG4 protein (p.Thr705Ala). This variant is present in population databases (rs766031746, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FIG4-related conditions. ClinVar contains an entry for this variant (Variation ID: 287039). 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.
Ambry Genetics RCV002418119 SCV002727052 uncertain significance Inborn genetic diseases 2021-02-27 criteria provided, single submitter clinical testing The p.T705A variant (also known as c.2113A>G), located in coding exon 19 of the FIG4 gene, results from an A to G substitution at nucleotide position 2113. The threonine at codon 705 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003391049 SCV004118988 uncertain significance FIG4-related disorder 2024-09-11 no assertion criteria provided clinical testing The FIG4 c.2113A>G variant is predicted to result in the amino acid substitution p.Thr705Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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