ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter)

dbSNP: rs932494060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672953 SCV000798112 likely pathogenic Argininosuccinate lyase deficiency 2018-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672953 SCV004642449 pathogenic Argininosuccinate lyase deficiency 2022-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ASL protein in which other variant(s) (p.Arg456Trp) have been determined to be pathogenic (PMID: 17326097, 19703900, 24166829, 26843370). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with argininosuccinate lyase deficiency (PMID: 32410394). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr437*) in the ASL gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 28 amino acid(s) of the ASL protein.

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