ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1302T>A (p.Asp434Glu)

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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 RCV002918560 SCV003256623 uncertain significance Muscle AMP deaminase deficiency 2022-04-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 467 of the AMPD1 protein (p.Asp467Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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