ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1165G>A (p.Glu389Lys)

gnomAD frequency: 0.00002  dbSNP: rs1465800300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580627 SCV001810269 uncertain significance Argininosuccinate lyase deficiency 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570823 SCV003572640 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.1165G>A (p.E389K) alteration is located in exon 16 (coding exon 15) of the ASL gene. This alteration results from a G to A substitution at nucleotide position 1165, causing the glutamic acid (E) at amino acid position 389 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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