Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667335 | SCV000791768 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667335 | SCV001209663 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 8 of the GALC protein (p.Ala8Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs376511103, ExAC 0.1%). This missense change has been observed in individual(s) with clinical features of GALC-related conditions (PMID: 26795590). This variant is also known as c.-26C>T. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Natera, |
RCV000667335 | SCV001454078 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |