ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.3G>A (p.Met1Ile)

dbSNP: rs863224030
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196656 SCV000251555 pathogenic not provided 2013-08-12 criteria provided, single submitter clinical testing p.Met1? (ATG>?): c.3 G>A in exon 1 of the GFM1 gene (NM_024996.5). The c.3 G>A mutation has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.3 G>A 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.3 G>A is expected to be a pathogenic mutation. The variant is found in MITONUC-MITOP panel(s)."
Natera, Inc. RCV001273487 SCV001456569 pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2020-09-16 no assertion criteria provided clinical testing

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