ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)

gnomAD frequency: 0.00003  dbSNP: rs377017892
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711653 SCV000842040 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001237155 SCV001409906 uncertain significance Charcot-Marie-Tooth disease type 4 2022-04-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 787 of the FIG4 protein (p.Ser787Asn). This variant is present in population databases (rs377017892, gnomAD 0.003%). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 21705420). ClinVar contains an entry for this variant (Variation ID: 585870). 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 RCV002442546 SCV002733196 uncertain significance Inborn genetic diseases 2019-08-30 criteria provided, single submitter clinical testing The p.S787N variant (also known as c.2360G>A), located in coding exon 20 of the FIG4 gene, results from a G to A substitution at nucleotide position 2360. The serine at codon 787 is replaced by asparagine, an amino acid with highly similar properties. This nucleotide position is not well conserved in available vertebrate species. This amino acid position is 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.
Fulgent Genetics, Fulgent Genetics RCV002499285 SCV002814757 uncertain significance Amyotrophic lateral sclerosis type 11; Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome 2022-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000711653 SCV003933486 uncertain significance not provided 2022-12-07 criteria provided, single submitter clinical testing Identified in the single heterozygous state in two individuals with unspecified Charcot-Marie-Tooth disease (Nicholson et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21705420)

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