ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.2086-3T>C

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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 RCV003088515 SCV003484855 uncertain significance Muscle AMP deaminase deficiency 2022-08-23 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the AMPD1 gene. It does not directly change the encoded amino acid sequence of the AMPD1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs552905568, gnomAD 0.04%). 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 is not likely to affect RNA splicing. 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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