ClinVar Miner

Submissions for variant NM_001002755.4(NFU1):c.359C>A (p.Thr120Asn)

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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 RCV002597168 SCV002947150 uncertain significance Multiple mitochondrial dysfunctions syndrome 1 2022-09-30 criteria provided, single submitter clinical testing 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. 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 expected to disrupt NFU1 protein function. This variant has not been reported in the literature in individuals affected with NFU1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 120 of the NFU1 protein (p.Thr120Asn).

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