ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141355 SCV003826219 uncertain significance Muscle AMP deaminase deficiency 2019-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003141355 SCV004252803 uncertain significance Muscle AMP deaminase deficiency 2024-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg595*) in the AMPD1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in AMPD1 cause disease. This variant is present in population databases (rs749286592, gnomAD 0.05%). This premature translational stop signal has been observed in individual(s) with cerebral palsy (PMID: 34077496). ClinVar contains an entry for this variant (Variation ID: 2439020). 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.

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