ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.292G>T (p.Glu98Ter)

gnomAD frequency: 0.00001  dbSNP: rs770375565
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668876 SCV000793549 likely pathogenic Argininosuccinate lyase deficiency 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV000668876 SCV001233498 pathogenic Argininosuccinate lyase deficiency 2023-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu98*) 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). This variant is present in population databases (rs770375565, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with argininosuccinate lyase deficiency (PMID: 24166829). ClinVar contains an entry for this variant (Variation ID: 553428). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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