ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.610T>C (p.Trp204Arg) (rs869312148)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727338 SCV000707661 likely pathogenic not provided 2017-04-11 criteria provided, single submitter clinical testing
Biochemistry Metabolomics and Proteomics Laboratory,Necker Enfants Malades Hospital RCV000209164 SCV001250894 likely pathogenic Fabry disease 2020-01-08 criteria provided, single submitter clinical testing Expression study of the c.610T>C variant showed an enzymatic activity around 0 and an absence of responsiveness to pharmacological chaperone (Lukas et al. Hum Mutat 2016, 37: 43). The variant reported 3 times in ClinVar was not found in population database such as GnomAD. Multiple lines of computational evidence support a deleterious effect on the gene or gene product : highly conserved nucleotide, highly conserved amino acid on 10 species up to domestic mosquito, variant considered as deleterious according to PolyPhen (probably damaging, score 1) and SIFT (predict not tolerated).
Albrecht-Kossel-Institute,Medical University Rostock RCV000209164 SCV000246055 pathogenic Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute,Medical University Rostock RCV000209436 SCV000246056 drug response Migalastat response 2014-01-01 no assertion criteria provided research

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