ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.1227TGG[1] (p.Gly411del)

dbSNP: rs2124651780
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001535821 SCV001751531 uncertain significance Severe X-linked mitochondrial encephalomyopathy 2021-07-14 criteria provided, single submitter clinical testing The variant was detected in a patient presenting with a complex neuromuscular phenotype showing axonal neuropathy, ataxia and sensorineural hearing loss. The variant is absent from population databases and it has not been reported in the literature. Segregation analysis has not yet been performed. An in-frame deletion in the AIFM1 gene has been described as being pathogenic. We have classified the variant as a "variant of unknown significance".

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