ClinVar Miner

Submissions for variant NM_015713.4(RRM2B):c.1A>G (p.Met1Val) (rs772913758)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493307 SCV000583263 likely pathogenic not provided 2016-09-08 criteria provided, single submitter clinical testing The c.1 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1 A>G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1 A>G variant 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, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded."
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261650 SCV001438950 likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy criteria provided, single submitter clinical testing

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