Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667929 | SCV000792456 | likely pathogenic | Deficiency of galactokinase | 2017-06-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667929 | SCV001411291 | pathogenic | Deficiency of galactokinase | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly137Valfs*27) in the GALK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALK1 are known to be pathogenic (PMID: 7670469, 10790206). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with GALK1-related conditions (PMID: 10570908, 20405025). ClinVar contains an entry for this variant (Variation ID: 552633). For these reasons, this variant has been classified as Pathogenic. |
3billion | RCV000667929 | SCV002058230 | pathogenic | Deficiency of galactokinase | 2022-01-03 | criteria provided, single submitter | clinical testing | Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000552633, PMID:10570908). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Ce |
RCV003326487 | SCV004033584 | pathogenic | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | GALK1: PVS1, PM2, PM3, PP4 |
Baylor Genetics | RCV000667929 | SCV004197926 | pathogenic | Deficiency of galactokinase | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000667929 | SCV002088896 | pathogenic | Deficiency of galactokinase | 2020-03-13 | no assertion criteria provided | clinical testing |