ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) (rs759213174)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000364271 SCV000329748 pathogenic not provided 2018-09-20 criteria provided, single submitter clinical testing The R1606X pathogenic variant in the SETX gene has been reported previously in combination with a second SETX variant in two unrelated individuals with ataxia, oculomotor apraxia, cerebellar dysarthria, neuropathy with muscular atrophy, areflexia of upper and lower limbs, and eleveated serum AFP (Bernard et al., 2009). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1606X 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 R1606X as a pathogenic variant.

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