ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 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".

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