Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493135 | SCV000582687 | pathogenic | not provided | 2019-07-08 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25525159, 20886637, 23319190, 26795590, 27638593) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590611 | SCV000695677 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2016-04-28 | criteria provided, single submitter | clinical testing | Variant summary: The c.379C>T (p.Arg127*) variant in GALC gene is a nonsense mutation. The mutation is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. The variant has been reported in several affected individuals presented with infantile form of Krabbe via published reports. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.0032% exclusively in individuals of European descent (0.06%). This frequency does not exceed the maximal expected allele frequency for a pathogenic variant in GALC gene (0.22%). Taken together, the variant was classified as Pathogenic. |
Invitae | RCV000590611 | SCV000827315 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg127*) in the GALC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). This variant is present in population databases (rs200532368, gnomAD 0.005%). This premature translational stop signal has been observed in individuals with autosomal recessive Krabbe disease (PMID: 20886637, 21824559, 27638593). This variant is also known as p.R111X. ClinVar contains an entry for this variant (Variation ID: 429982). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000590611 | SCV001528218 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2018-01-18 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with Krabbe disease [PMID 20886637] |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000590611 | SCV004013151 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2023-04-27 | criteria provided, single submitter | clinical testing | PVS1, PS3, PM2 |
Revvity Omics, |
RCV000493135 | SCV004236388 | pathogenic | not provided | 2023-04-03 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000590611 | SCV002093653 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2021-02-20 | no assertion criteria provided | clinical testing |