ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter)

gnomAD frequency: 0.00001  dbSNP: rs377185948
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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 RCV001899351 SCV002128591 uncertain significance Muscle AMP deaminase deficiency 2024-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg603*) 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 (rs377185948, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1370488). 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.
Revvity Omics, Revvity RCV001899351 SCV003826214 uncertain significance Muscle AMP deaminase deficiency 2019-07-23 criteria provided, single submitter clinical testing

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