ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.760C>T (p.Arg254Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002900513 SCV003252049 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2045406). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NAXE protein function. 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. This variant has not been reported in the literature in individuals affected with NAXE-related conditions. This variant is present in population databases (rs368556517, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 254 of the NAXE protein (p.Arg254Cys).
Ambry Genetics RCV002918159 SCV003756029 uncertain significance Inborn genetic diseases 2024-08-01 criteria provided, single submitter clinical testing The c.760C>T (p.R254C) alteration is located in exon 6 (coding exon 6) of the NAXE gene. This alteration results from a C to T substitution at nucleotide position 760, causing the arginine (R) at amino acid position 254 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV003330110 SCV004037122 uncertain significance Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 criteria provided, single submitter not provided

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