ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1112G>A (p.Arg371His)

gnomAD frequency: 0.00004  dbSNP: rs146437677
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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 RCV002047479 SCV002117482 uncertain significance Muscle AMP deaminase deficiency 2022-02-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. 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 is present in population databases (rs146437677, gnomAD 0.05%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 404 of the AMPD1 protein (p.Arg404His).

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