ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln)

gnomAD frequency: 0.00005  dbSNP: rs766786579
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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 RCV000811082 SCV000951329 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 298 of the AIFM1 protein (p.Arg298Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs766786579, ExAC 0.03%). This missense change has been observed in individual(s) with chronic progressive external ophthalmoplegia and dysphagia (PMID: 29625556). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GeneDx RCV002225737 SCV002504035 likely benign not provided 2019-07-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004584805 SCV005073753 likely pathogenic Deafness, X-linked 5 2024-02-21 criteria provided, single submitter research According to Deafness Variation Database

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