ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1045G>A (p.Val349Ile)

gnomAD frequency: 0.00006  dbSNP: rs372774556
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693502 SCV000821373 uncertain significance Argininosuccinate lyase deficiency 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 349 of the ASL protein (p.Val349Ile). This variant is present in population databases (rs372774556, gnomAD 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: 572182). 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 ASL 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.
Genome-Nilou Lab RCV000693502 SCV001781314 uncertain significance Argininosuccinate lyase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531470 SCV003740767 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.1045G>A (p.V349I) alteration is located in exon 14 (coding exon 13) of the ASL gene. This alteration results from a G to A substitution at nucleotide position 1045, causing the valine (V) at amino acid position 349 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000693502 SCV001460132 uncertain significance Argininosuccinate lyase deficiency 2019-10-28 no assertion criteria provided clinical testing

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