ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.735G>A (p.Trp245Ter)

dbSNP: rs1554327573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667947 SCV000792476 likely pathogenic Argininosuccinate lyase deficiency 2017-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667947 SCV003440057 pathogenic Argininosuccinate lyase deficiency 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 552651). This premature translational stop signal has been observed in individual(s) with Argininosuccinate lyase deficiency (PMID: 24166829). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp245*) in the ASL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASL are known to be pathogenic (PMID: 2263616, 24166829).
Baylor Genetics RCV000667947 SCV004201228 pathogenic Argininosuccinate lyase deficiency 2023-11-30 criteria provided, single submitter clinical testing

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