ClinVar Miner

Submissions for variant NC_000001.11:g.114695550A>G

dbSNP: rs759414256
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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 RCV001961743 SCV002248074 uncertain significance Muscle AMP deaminase deficiency 2021-05-19 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 create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with AMPD1-related conditions. This variant is present in population databases (rs759414256, ExAC 0.006%). This sequence change affects codon 7 of the AMPD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AMPD1 protein.

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