Submissions for variant NM_000169.3(GLA):c.610T>C (p.Trp204Arg)

dbSNP: rs869312148

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	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