Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246394 | SCV001419744 | pathogenic | Deficiency of galactokinase | 2023-02-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GALK1 protein in which other variant(s) (p.Gln382*) have been determined to be pathogenic (PMID: 10790206). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with GALK1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change results in a frameshift in the GALK1 gene (p.Pro362Trpfs*37). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acid(s) of the GALK1 protein and extend the protein by 5 additional amino acid residues. |
Baylor Genetics | RCV001246394 | SCV004197946 | likely pathogenic | Deficiency of galactokinase | 2023-02-03 | criteria provided, single submitter | clinical testing |