ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.1049A>T (p.Asn350Ile)

gnomAD frequency: 0.00001  dbSNP: rs1189292666
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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 RCV001936020 SCV002191910 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2021-01-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with isoleucine at codon 350 of the AIFM1 protein (p.Asn350Ile). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and isoleucine. 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 not expected to disrupt AIFM1 protein function. This variant has not been reported in the literature in individuals with AIFM1-related conditions.

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