ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) (rs376357524)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186683 SCV000240249 uncertain significance not provided 2015-03-05 criteria provided, single submitter clinical testing p.Arg309Cys (CGC>TGC): c.925 C>T in exon 9 of the ADSL gene (NM_000026.2) The Arg309Cys missense change in the ADSL gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant is a non-conservative amino acid substitution of a positively charged Arginine residue with an uncharged Cysteine residue, and the addition of a Cysteine may alter disulfide bonds and the secondary structure of the protein. It alters a position that is conserved across species, and other missense mutations associated with adenylosuccinate lyase deficiency have been reported nearby (Arg303Cys and Leu311Val). Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, based on the currently available information, it is unclear whether Arg309Cys is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).
Fulgent Genetics,Fulgent Genetics RCV000764387 SCV000895440 uncertain significance Adenylosuccinate lyase deficiency 2018-10-31 criteria provided, single submitter clinical testing

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