Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000725876 | SCV000340180 | uncertain significance | not provided | 2016-03-30 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000725876 | SCV000531266 | uncertain significance | not provided | 2016-08-31 | criteria provided, single submitter | clinical testing | The G607E variant in the AMPD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G607E variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G607E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G607E as a variant of uncertain significance. |
| Labcorp Genetics |
RCV000290731 | SCV001131852 | likely benign | Muscle AMP deaminase deficiency | 2023-12-31 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000290731 | SCV003826232 | uncertain significance | Muscle AMP deaminase deficiency | 2019-08-09 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004701382 | SCV005202547 | uncertain significance | not specified | 2024-07-12 | criteria provided, single submitter | clinical testing | Variant summary: AMPD1 c.1721G>A (p.Gly574Glu) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00062 in 251450 control chromosomes in the gnomAD database, including 1 homozygote. This frequency is not significantly higher than estimated for a pathogenic variant in AMPD1 causing Muscle AMP Deaminase Deficiency, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1721G>A in individuals affected with Muscle AMP Deaminase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 286655). Based on the evidence outlined above, the variant was classified as uncertain significance. |