ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)

gnomAD frequency: 0.00002  dbSNP: rs119450943
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV000002568 SCV004101553 pathogenic Adenylosuccinate lyase deficiency criteria provided, single submitter clinical testing The missense variant c.1264G>T (p.Asp422Tyr) in ADSL gene has been reported in heterozygous state in individuals affected with Adenylosuccinase deficiency (Van Laer et al., 2018). Experimental studies have shown that this missense decrease in enzymatic activity of this mutant can be directly related to its reduced stability (Van Laer et al., 2018). This variant has allele frequency 0.001% in the gnomAD and novel in 1000 genome database. This variant has been reported to the ClinVar database as Uncertain significance. The amino acid Asp at position 422 is changed to a Tyr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Asp422Tyr in ADSL is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002568 SCV000022726 pathogenic Adenylosuccinate lyase deficiency 1998-02-27 no assertion criteria provided literature only

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