ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.106C>T (p.Gln36Ter)

dbSNP: rs746801564
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046863 SCV002109119 uncertain significance Muscle AMP deaminase deficiency 2021-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln69*) 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 (rs746801564, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. 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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