ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) (rs761493155)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186680 SCV000240246 pathogenic not provided 2014-03-13 criteria provided, single submitter clinical testing p.Arg337Stop (CGA>TGA): c.1009 C>T in exon 9 of the ADSL gene (NM_000026.2) The Arg337Stop mutation has been reported previously as a compound heterozygous mutation in an individual with ADSL deficiency (Kmoch et al., 2000). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in EPILEPSY panel(s).

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