ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.584A>G (p.Asn195Ser)

gnomAD frequency: 0.00001  dbSNP: rs1409298819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068386 SCV001233497 uncertain significance Argininosuccinate lyase deficiency 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 195 of the ASL protein (p.Asn195Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of ASL-related conditions (Invitae). 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. RCV001068386 SCV001460128 uncertain significance Argininosuccinate lyase deficiency 2020-01-24 no assertion criteria provided clinical testing

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