ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.43G>A (p.Gly15Arg)

gnomAD frequency: 0.00001  dbSNP: rs752877406
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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 RCV001937724 SCV002179210 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NEXMIF-related conditions. This sequence change replaces glycine with arginine at codon 15 of the NEXMIF protein (p.Gly15Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs752877406, ExAC 0.002%), including at least one homozygous and/or hemizygous individual. 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: "Benign"; Align-GVGD: "Class C0"). 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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