Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001298217 | SCV001487263 | uncertain significance | Mucopolysaccharidosis type 7 | 2020-03-01 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GUSB-related conditions. This variant is present in population databases (rs367989163, ExAC 0.003%). This sequence change replaces tyrosine with histidine at codon 205 of the GUSB protein (p.Tyr205His). The tyrosine residue is weakly conserved and there is a moderate physicochemical difference between tyrosine and histidine. |
| Ambry Genetics | RCV002541856 | SCV003577078 | uncertain significance | Inborn genetic diseases | 2021-10-06 | criteria provided, single submitter | clinical testing | The c.613T>C (p.Y205H) alteration is located in exon 4 (coding exon 4) of the GUSB gene. This alteration results from a T to C substitution at nucleotide position 613, causing the tyrosine (Y) at amino acid position 205 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |