ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.3G>C (p.Met1Ile)

dbSNP: rs863223895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200556 SCV000251106 pathogenic not provided 2014-10-21 criteria provided, single submitter clinical testing p.Met1? (ATG>ATC): c.3 G>C in exon 2 of the AGK gene (NM_018238.3)The c.3 G>C mutation has been reported previously in association with Sengers syndrome in two individuals who were also heterozygous for another mutation in the AGK gene (Mayr et al., 2012). The 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. The variant is found in MITONUC-MITOP panel(s)."
OMIM RCV000023811 SCV000045102 pathogenic Sengers syndrome 2012-02-10 no assertion criteria provided literature only

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