ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.841C>T (p.Arg281Ter)

gnomAD frequency: 0.00001  dbSNP: rs387907025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000280769 SCV000329927 pathogenic not provided 2017-03-13 criteria provided, single submitter clinical testing The R281X pathogenic variant in the AGK gene has been reported previously in two unrelated individuals with Sengers syndrome who were each compound heterozygous for the R281X variant and another loss-of-function variant (Mayr et al., 2012; Haghighi et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R281X 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. We interpret R281X as a pathogenic variant.
OMIM RCV000023814 SCV000045105 pathogenic Sengers syndrome 2012-02-10 no assertion criteria provided literature only

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