ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.503G>A (p.Arg168His)

dbSNP: rs727503811
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152800 SCV000202190 uncertain significance not provided 2014-03-05 criteria provided, single submitter clinical testing
Counsyl RCV000667843 SCV000792352 uncertain significance Argininosuccinate lyase deficiency 2017-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667843 SCV001516713 likely pathogenic Argininosuccinate lyase deficiency 2023-05-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs727503811, gnomAD 0.006%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 ASL protein function. ClinVar contains an entry for this variant (Variation ID: 166698). This missense change has been observed in individual(s) with clinical features of argininosuccinate lyase deficiency (PMID: 24166829, 32778825; Invitae). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 168 of the ASL protein (p.Arg168His).
Natera, Inc. RCV000667843 SCV002076007 uncertain significance Argininosuccinate lyase deficiency 2020-03-30 no assertion criteria provided clinical testing

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