ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.550C>T (p.Gln184Ter)

dbSNP: rs1569096551
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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 RCV000707388 SCV000836484 pathogenic Adenylosuccinate lyase deficiency 2023-08-04 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: 583132). This variant has not been reported in the literature in individuals affected with ADSL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln184*) 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 RCV004721573 SCV005327405 pathogenic not provided 2024-01-05 criteria provided, single submitter clinical testing Nonsense 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31440721)

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