ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1595A>T (p.Glu532Val)

gnomAD frequency: 0.00011  dbSNP: rs776146662
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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 RCV001996124 SCV002285699 uncertain significance Muscle AMP deaminase deficiency 2023-08-17 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. ClinVar contains an entry for this variant (Variation ID: 1497520). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (rs776146662, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 565 of the AMPD1 protein (p.Glu565Val).

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