Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673949 | SCV000799210 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2018-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673949 | SCV004297158 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2023-05-27 | criteria provided, single submitter | clinical testing | 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. 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: 557770). This missense change has been observed in individual(s) with Krabbe disease (PMID: 21824559). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 53 of the GALC protein (p.Arg53Trp). |