ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val)

gnomAD frequency: 0.00001  dbSNP: rs1375125488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796324 SCV000935832 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2023-03-07 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 not expected to disrupt AIFM1 protein function. ClinVar contains an entry for this variant (Variation ID: 642792). This variant has not been reported in the literature in individuals affected with AIFM1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 565 of the AIFM1 protein (p.Ile565Val).
Fulgent Genetics, Fulgent Genetics RCV002487666 SCV002793868 uncertain significance Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Spondyloepimetaphyseal dysplasia, Bieganski type; Severe X-linked mitochondrial encephalomyopathy 2022-04-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480832 SCV004225682 uncertain significance not provided 2022-09-22 criteria provided, single submitter clinical testing BP4, PM2

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