ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1679+1G>C

gnomAD frequency: 0.00001  dbSNP: rs1311864516
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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 RCV002000458 SCV002262238 uncertain significance Muscle AMP deaminase deficiency 2022-07-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1481101). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects a donor splice site in intron 12 of the AMPD1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in AMPD1 cause disease.

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