ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.788G>A (p.Arg263His)

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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 RCV002974780 SCV003280060 uncertain significance Muscle AMP deaminase deficiency 2023-04-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2068373). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (rs775559099, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 296 of the AMPD1 protein (p.Arg296His).
Revvity Omics, Revvity RCV002974780 SCV003826271 uncertain significance Muscle AMP deaminase deficiency 2019-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003377816 SCV004065725 uncertain significance Inborn genetic diseases 2023-06-21 criteria provided, single submitter clinical testing The c.887G>A (p.R296H) alteration is located in exon 7 (coding exon 7) of the AMPD1 gene. This alteration results from a G to A substitution at nucleotide position 887, causing the arginine (R) at amino acid position 296 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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