Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Traditional Chinese Medicine, |
RCV003389033 | SCV004100809 | uncertain significance | Gaucher disease type I | no assertion criteria provided | literature only | A patient with combined splenomegaly and thrombocytopenia was genetically tested for mutant GBA (NM_001005741): c.907C>A (p.Leu303Ile), a missense mutation in exon 8, for which impairment of protein function is predicted by:SIFT: Deleterious; Polyphen2: Possibly damaging; MutationTaster: disease causing, and according to the ACMG guidelines, this mutation site meets the following criteria: PM1: Located in a mutational hot spot and/or critical and well-established functional domain (e.g. active site of an enzyme) without benign variation; PM2: Absent from controls (or at extremely low frequency if recessive) in the Exome Sequencing Project, 1000 Genomes or ExAC; and PP3: Multiple lines of computational evidence supporting a deleterious effect on the gene or gene product (conservation, evolutionary, spatial). product (conservation, evolutionary, splicing impact, etc). The mutation is considered to be of "uncertain significance". |