Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001034992 | SCV001198297 | uncertain significance | Immunodeficiency 23 | 2019-03-07 | 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 arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PGM3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 417 of the PGM3 protein (p.Gln417Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. |
Ambry Genetics | RCV004030945 | SCV005002672 | uncertain significance | Inborn genetic diseases | 2024-01-30 | criteria provided, single submitter | clinical testing | The c.1250A>G (p.Q417R) alteration is located in exon 11 (coding exon 10) of the PGM3 gene. This alteration results from a A to G substitution at nucleotide position 1250, causing the glutamine (Q) at amino acid position 417 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |