ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.-21T>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002746484 SCV003010687 uncertain significance Adenylosuccinate lyase deficiency 2021-12-06 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the ADSL gene. It does not change the encoded amino acid sequence of the ADSL protein. This variant is present in population databases (rs183190870, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ADSL-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University RCV002746484 SCV003838958 likely pathogenic Adenylosuccinate lyase deficiency no assertion criteria provided clinical testing

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