ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu)

dbSNP: rs2013223468
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046374 SCV001210273 uncertain significance Marshall-Smith syndrome; Malan overgrowth syndrome 2019-03-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 46 of the NFIX protein (p.Arg46Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with an NFIX-related condition (PMID: 28475857, 29897170). This variant has also been reported as c.113G>T (p.Arg38Leu). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg46 amino acid residue in NFIX. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29897170, 26200704). This suggests that this residue is clinically-significant, and that variants that disrupt this residue are likely to be disease-causing. 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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