ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.581G>A (p.Arg194His)

dbSNP: rs755359802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634539 SCV000755857 uncertain significance Adenylosuccinate lyase deficiency 2022-11-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 194 of the ADSL protein (p.Arg194His). This variant is present in population databases (rs755359802, gnomAD 0.0009%). 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: 529216). 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 not 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.
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269550 SCV001449613 likely pathogenic not provided 2015-09-11 criteria provided, single submitter clinical testing
Mendelics RCV000634539 SCV002517526 pathogenic Adenylosuccinate lyase deficiency 2022-05-04 criteria provided, single submitter clinical testing

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