ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.807dup (p.Arg270fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002675827 SCV002987368 pathogenic Adenylosuccinate lyase deficiency 2023-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1942226). This variant has not been reported in the literature in individuals affected with ADSL-related conditions. This variant is present in population databases (rs774729848, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg270Thrfs*14) in the ADSL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADSL are known to be pathogenic (PMID: 10888601, 20177786).
GeneDx RCV005254122 SCV005906462 pathogenic not provided 2024-10-02 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Has not been previously reported as pathogenic or benign in association with ADSL-related disorders to our knowledge; This variant is associated with the following publications: (PMID: 28127531)

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