ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1292G>A (p.Arg431His)

gnomAD frequency: 0.00006  dbSNP: rs61757695
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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 RCV002006922 SCV002293922 uncertain significance Muscle AMP deaminase deficiency 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 464 of the AMPD1 protein (p.Arg464His). This variant is present in population databases (rs61757695, gnomAD 0.08%). 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: 1506703). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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.
Ambry Genetics RCV003365650 SCV004053647 uncertain significance Inborn genetic diseases 2023-08-04 criteria provided, single submitter clinical testing The c.1391G>A (p.R464H) alteration is located in exon 10 (coding exon 10) of the AMPD1 gene. This alteration results from a G to A substitution at nucleotide position 1391, causing the arginine (R) at amino acid position 464 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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