ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.2171G>T (p.Arg724Leu)

dbSNP: rs146036570
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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 RCV002019018 SCV002266042 uncertain significance Muscle AMP deaminase deficiency 2021-09-22 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (rs146036570, ExAC 0.01%). This sequence change replaces arginine with leucine at codon 757 of the AMPD1 protein (p.Arg757Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine.

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