Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668173 | SCV000792731 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2017-07-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668173 | SCV003442739 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2022-08-19 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects GALC function (PMID: 10234611). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALC protein function. ClinVar contains an entry for this variant (Variation ID: 552834). This variant is also known as p.S52F. This missense change has been observed in individual(s) with Krabbe disease (PMID: 10234611, 24252386). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 68 of the GALC protein (p.Ser68Phe). |