Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671847 | SCV000796876 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2018-01-03 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000671847 | SCV002516340 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671847 | SCV003442356 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 392 of the GALC protein (p.Ser392Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GALC-related conditions. This variant is also known as S376P. ClinVar contains an entry for this variant (Variation ID: 555927). 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. Experimental studies have shown that this missense change affects GALC function (PMID: 27638593). 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. |