ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) (rs367543005)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078007 SCV000225991 pathogenic not provided 2016-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000078007 SCV000238699 pathogenic not provided 2016-09-09 criteria provided, single submitter clinical testing p.Q354* CAG>TAG c.1060C>T nonsense variant in the ASL gene was identified in the homozygous state in 14 of 28 patients from Saudi Arabia who were diagnosed with argininosuccinic aciduria (ASA) after being detected on MS/MS newborn screening (Al-Sayed et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Counsyl RCV000020415 SCV000485605 pathogenic Argininosuccinate lyase deficiency 2016-07-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000020415 SCV000694148 pathogenic Argininosuccinate lyase deficiency 2016-05-05 criteria provided, single submitter clinical testing Variant summary: The c.1060C>T variant results in a premature termination codon, predicted to cause a truncated or absent ASL protein, which is a commonly known mechanism for disease. One in-silico tool predicts damaging outcome for this variant. 4/5 splice prediction tools predict that this variant does not affect normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions are not confirmed by experimental studies.This variant is not found in 116646 control chromosomes. This variant has been reported in many affected individuals as a founder mutation in the Saudi population (Al-Sayed_JIMD_2005). In addition, multiple clinical laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant was classified as pathogenic.
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000020415 SCV000891477 pathogenic Argininosuccinate lyase deficiency 2017-12-30 criteria provided, single submitter curation
GeneReviews RCV000020415 SCV000040815 pathologic Argininosuccinate lyase deficiency 2011-02-03 no assertion criteria provided curation Converted during submission to Pathogenic.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000020415 SCV001133190 pathogenic Argininosuccinate lyase deficiency 2019-09-26 no assertion criteria provided clinical testing

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