ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys) (rs796052248)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186692 SCV000240258 pathogenic not provided 2012-07-19 criteria provided, single submitter clinical testing p.Arg426Cys (CGT>TGT): c.1276 C>T in exon 12 of the ADSL gene (NM_000026.2) The Arg426Cys mutation is a non-conservative amino acid change, since a positively charged Arginine is replaced with a neutral Cysteine, which may also affect formation of disulfide bonds. Although this specific mutation has not been published previously to our knowledge, a different missense substitution at the same position, Arg426His, is the most commonly observed mutation in ADSL and has been reported in homozygous as well as compound heterozgous form (Jurecka et al., 2008; Marie et al., 1999; Zikanova et al. 2010). The Arg426His mutation is located at the surface of the substrate channel of the encoded protein where its presence disrupts arginine-mediated interactions with Gln409 and Asp422 residues. Functional studies have demonstrated that Arg426His significantly reduces enzyme activity and thermal stability (Zikanova et al. 2010). The variant is found in CHILD-EPI panel(s).

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