ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln)

gnomAD frequency: 0.00001  dbSNP: rs752742151
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196053 SCV000251112 uncertain significance not provided 2024-02-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31178897, 34416374, 32376792)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000196053 SCV000510611 uncertain significance not provided 2016-10-24 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001071849 SCV001237177 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2019-12-13 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with AIFM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 214082). This variant is present in population databases (rs752742151, ExAC 0.01%). This sequence change replaces arginine with glutamine at codon 151 of the AIFM1 protein (p.Arg151Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
Institute of Human Genetics, University of Leipzig Medical Center RCV000768430 SCV001440835 uncertain significance Severe X-linked mitochondrial encephalomyopathy 2023-05-26 criteria provided, single submitter clinical testing Criteria applied: PS4_SUP,PM2_SUP,PP3,BP5
Biochemistry Laboratory of CDMU, Chengde Medical University RCV000768430 SCV000899188 likely pathogenic Severe X-linked mitochondrial encephalomyopathy no assertion criteria provided case-control

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