ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.602+1G>A

gnomAD frequency: 0.00001  dbSNP: rs398123127
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078015 SCV000109853 pathogenic not provided 2013-11-14 criteria provided, single submitter clinical testing
Counsyl RCV000672800 SCV000797943 likely pathogenic Argininosuccinate lyase deficiency 2018-02-15 criteria provided, single submitter clinical testing
Invitae RCV000672800 SCV001388733 pathogenic Argininosuccinate lyase deficiency 2023-10-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the ASL gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ASL are known to be pathogenic (PMID: 2263616, 24166829). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with argininosuccinate lyase deficiency (PMID: 24166829; Invitae). ClinVar contains an entry for this variant (Variation ID: 92365). 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.
Fulgent Genetics, Fulgent Genetics RCV000672800 SCV002814525 pathogenic Argininosuccinate lyase deficiency 2021-12-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672800 SCV004202378 pathogenic Argininosuccinate lyase deficiency 2023-10-28 criteria provided, single submitter clinical testing

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