ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.950G>A (p.Arg317His)

gnomAD frequency: 0.00001  dbSNP: rs142123340
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001891583 SCV002162869 uncertain significance Muscle AMP deaminase deficiency 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 350 of the AMPD1 protein (p.Arg350His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs142123340, ExAC 0.01%). This variant has not been reported in the literature in individuals with AMPD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV001891583 SCV003826220 uncertain significance Muscle AMP deaminase deficiency 2022-07-14 criteria provided, single submitter clinical testing

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