ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.-60dup

dbSNP: rs770393080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336066 SCV001529358 uncertain significance Muscle AMP deaminase deficiency 2018-01-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001336066 SCV003512480 uncertain significance Muscle AMP deaminase deficiency 2022-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His14Profs*29) 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 (rs770393080, gnomAD 0.01%). 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: 1033604). 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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