ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1358G>A (p.Arg453His)

gnomAD frequency: 0.00004  dbSNP: rs762805462
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001225309 SCV001335302 uncertain significance Argininosuccinate lyase deficiency 2020-04-10 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 17 of the ASL gene that results in the amino acid substitution of Histidine for Arginine at codon 453 was detected. The observed variant c.1358G>A (p.Arg453His) has not been reported in the 1000 genomes database and has a minor allele frequency of 0.003% in the ExAC databases. The in silico prediction of the variant is damaging by SIFT. The reference codon is conserved across primates. In summary, the variant meets our criteria to be classified as variant of uncertain significance.

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