ClinVar Miner

Submissions for variant NM_007289.4(MME):c.1564C>T (p.Gln522Ter)

dbSNP: rs1553765316
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498717 SCV000590538 pathogenic not provided 2017-06-19 criteria provided, single submitter clinical testing The Q522X variant in the MME gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q522X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q522X as a pathogenic variant.
CeGaT Center for Human Genetics Tuebingen RCV000498717 SCV004148585 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing MME: PVS1, PM2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001290399 SCV005184169 pathogenic Charcot-Marie-Tooth disease axonal type 2T 2024-08-07 criteria provided, single submitter clinical testing
Human Genetics Research Center, Baqiyatallah University of Medical Sciences RCV001290399 SCV001469087 pathogenic Charcot-Marie-Tooth disease axonal type 2T 2021-01-02 no assertion criteria provided clinical testing

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