ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.734G>A (p.Arg245Gln)

gnomAD frequency: 0.00004  dbSNP: rs374047157
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767889 SCV000898519 uncertain significance Adenylosuccinate lyase deficiency 2021-03-30 criteria provided, single submitter clinical testing ADSL NM_000026.3 exon 7 p.Arg245Gln (c.734G>A): This variant has not been reported in the literature but is present in 0.005% (7/126698) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/22-40756438-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000767889 SCV000953626 uncertain significance Adenylosuccinate lyase deficiency 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 245 of the ADSL protein (p.Arg245Gln). This variant is present in population databases (rs374047157, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ADSL-related conditions. ClinVar contains an entry for this variant (Variation ID: 625883). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ADSL protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000767889 SCV002779032 uncertain significance Adenylosuccinate lyase deficiency 2022-01-13 criteria provided, single submitter clinical testing

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