ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.922G>A (p.Ala308Thr)

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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 RCV003634137 SCV004536363 uncertain significance Muscle AMP deaminase deficiency 2023-09-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 341 of the AMPD1 protein (p.Ala341Thr). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (rs773353828, gnomAD 0.02%).

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