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
Invitae RCV000667947 SCV003440057 pathogenic Argininosuccinate lyase deficiency 2022-12-23 criteria provided, single submitter clinical testing 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). 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).
Baylor Genetics RCV000667947 SCV004201228 pathogenic Argininosuccinate lyase deficiency 2023-04-14 criteria provided, single submitter clinical testing

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