ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) (rs752742151)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemistry Laboratory of CDMU,Chengde Medical University RCV000768430 SCV000899188 likely pathogenic Combined oxidative phosphorylation deficiency 6 no assertion criteria provided case-control
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.
GeneDx RCV000196053 SCV000251112 likely pathogenic not provided 2012-09-11 criteria provided, single submitter clinical testing p.Arg151Gln (CGG>CAG):c.452 G>A in exon 4 of the AIFM1 gene (NM_004208.3). The R151Q missense change likely associated with a mitochondrial disorder was identified in the AIFM1 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Furthermore, the NHLBI ESP Exome Variant Server reports R151Q in the AIFM1 gene was not observed in approximately 3,200 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations, and R151Q was also not reported in the 1000 Genomes database. The amino acid change is non-conservative in that a positively charged Arginine residue is replaced by an uncharged Glutamine residue. This change occurs at a highly conserved position in the AIFM1 protein, and multiple in-silico analysis programs predict that R151Q is damaging to the AIFM1 protein. Therefore, R151Q is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).

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