ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1753G>A (p.Ala585Thr)

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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 RCV002716057 SCV003008487 uncertain significance Muscle AMP deaminase deficiency 2022-09-27 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AMPD1 protein function. This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (rs775529261, gnomAD 0.009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 618 of the AMPD1 protein (p.Ala618Thr).

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