ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.381G>A (p.Gly127=)

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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 RCV003072452 SCV003467638 uncertain significance Muscle AMP deaminase deficiency 2022-07-30 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. This sequence change affects codon 160 of the AMPD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AMPD1 protein. This variant also falls at the last nucleotide of exon 4, which is part of the consensus splice site for this exon. This variant is present in population databases (rs543041178, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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