ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1300G>T (p.Val434Leu)

dbSNP: rs773071023
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674177 SCV000799466 uncertain significance Argininosuccinate lyase deficiency 2018-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674177 SCV002119287 pathogenic Argininosuccinate lyase deficiency 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 434 of the ASL protein (p.Val434Leu). This variant is present in population databases (rs773071023, gnomAD 0.003%). This missense change has been observed in individual(s) with argininosuccinic aciduria (PMID: 24166829, 30285816). ClinVar contains an entry for this variant (Variation ID: 557968). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002531346 SCV003628095 uncertain significance Inborn genetic diseases 2022-07-22 criteria provided, single submitter clinical testing The c.1300G>T (p.V434L) alteration is located in exon 17 (coding exon 16) of the ASL gene. This alteration results from a G to T substitution at nucleotide position 1300, causing the valine (V) at amino acid position 434 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000674177 SCV004203139 likely pathogenic Argininosuccinate lyase deficiency 2023-09-06 criteria provided, single submitter clinical testing

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