ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln)

gnomAD frequency: 0.00003  dbSNP: rs886045093
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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 RCV003100540 SCV003484635 uncertain significance Muscle AMP deaminase deficiency 2022-08-12 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. 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 (no rsID available, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 749 of the AMPD1 protein (p.Arg749Gln).
Revvity Omics, Revvity RCV003100540 SCV003826236 uncertain significance Muscle AMP deaminase deficiency 2019-04-10 criteria provided, single submitter clinical testing

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