ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.122G>A (p.Arg41Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003276762 SCV003970867 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.122G>A (p.R41Q) alteration is located in exon 2 (coding exon 2) of the AIFM1 gene. This alteration results from a G to A substitution at nucleotide position 122, causing the arginine (R) at amino acid position 41 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779963 SCV004576347 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2023-03-07 criteria provided, single submitter clinical testing 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. 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 AIFM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 41 of the AIFM1 protein (p.Arg41Gln).

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