ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) (rs777821034)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186696 SCV000240262 pathogenic not provided 2018-02-14 criteria provided, single submitter clinical testing The S447P pathogenic variant in the ADSL gene has been reported previously in a patient with ADSL deficiency who harbored a second pathogenic variant in the ADSL gene (Marie et al., 2002). The S447P variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S447P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense variants in nearby residues (S448P, T450S, R452P) have been reported in the Human Gene Mutation Database in association with ADSL deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret S447P as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763485 SCV000894270 pathogenic Adenylosuccinate lyase deficiency 2018-10-31 criteria provided, single submitter clinical testing

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