ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.439G>A (p.Gly147Arg) (rs1555985830)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589918 SCV000695734 pathogenic Fabry disease 2016-05-23 criteria provided, single submitter clinical testing Variant summary: The GLA c.439G>A (p.Gly147Arg) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent from the large and broad dataset of ExAC (~0/ 87763 control chromosomes) but has been reported in affected individuals with enzymatically confirmed dx of Fabre Disease (Verrecchia_2016). In vitro studies using site directed mutagenesis also show absent enzyme activity (Lukas_2013). Taken together, this variant is classified as Pathogenic.

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