ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1345G>A (p.Asp449Asn)

gnomAD frequency: 0.00003  dbSNP: rs781031440
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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 Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000444615 SCV000511462 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001828397 SCV003509437 uncertain significance Argininosuccinate lyase deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 449 of the ASL protein (p.Asp449Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs781031440, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with ASL-related conditions. ClinVar contains an entry for this variant (Variation ID: 377191). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Natera, Inc. RCV001828397 SCV002076049 uncertain significance Argininosuccinate lyase deficiency 2019-10-28 no assertion criteria provided clinical testing

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