ClinVar Miner

Submissions for variant NM_016013.4(NDUFAF1):c.2T>C (p.Met1Thr)

gnomAD frequency: 0.00003  dbSNP: rs863224089
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199345 SCV000251813 pathogenic not provided 2014-07-31 criteria provided, single submitter clinical testing p.Met1? (ATG>?): c.2 T>C in exon 2 of the NDUFAF1 gene (NM_016013.2). A c.2 T>C mutation in the NDUFAF1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Mutations in the NDUFAF1 gene are associated with the autosomal recessive disorder mitochondrial complex I deficiency. The c.2 T>C mutation alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. Therefore, c.2 T>C is expected to be a pathogenic mutation. The variant is found in MITONUC-MITOP panel(s)."

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