ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln)

dbSNP: rs200543002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001908526 SCV002161581 uncertain significance Muscle AMP deaminase deficiency 2022-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 112 of the AMPD1 protein (p.Arg112Gln). This variant is present in population databases (rs200543002, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1389102). 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. 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 RCV001908526 SCV003826264 uncertain significance Muscle AMP deaminase deficiency 2019-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039095 SCV004894921 uncertain significance Inborn genetic diseases 2022-04-12 criteria provided, single submitter clinical testing The c.335G>A (p.R112Q) alteration is located in exon 4 (coding exon 4) of the AMPD1 gene. This alteration results from a G to A substitution at nucleotide position 335, causing the arginine (R) at amino acid position 112 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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