ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.853C>T (p.Gln285Ter) (rs796052246)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186679 SCV000240245 pathogenic not provided 2012-09-14 criteria provided, single submitter clinical testing p.Gln285Stop (CAG>TAG):c.853 C>T in exon 8 of the ADSL gene (NM_000026.2) The Gln285Stop nonsense mutation in the ADSL gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, it is considered a disease-causing mutation. The variant is found in EPILEPSY panel(s).

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