ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1088G>A (p.Arg363His) (rs111422676)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724675 SCV000331853 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000398396 SCV000695730 pathogenic Fabry disease 2017-07-05 criteria provided, single submitter clinical testing Variant summary: The GLA c.1088G>A (p.Arg363His) variant involves the alteration of a non-conserved nucleotide. 2/5 in silico tools predict a damaging outcome for this variant. This variant was found in 3/88023 control chromosomes (3 hemizygotes) at a frequency of 0.0000341, which does not exceed the estimated maximal expected allele frequency of a pathogenic GLA variant (0.005). This variant has been reported in multiple patients with classic or late-onset Fabry disease. In vitro enyzme activity assay showed this variant led to moderate decrease of enzyme activity. Multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. In addition, p.R363C and p.R363P have been reported to associate with Fabry disease, suggesting R363 is critical for GLA function. Taken together, this variant is classified as pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000398396 SCV000893811 pathogenic Fabry disease 2018-10-31 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000398396 SCV000993560 pathogenic Fabry disease 2018-10-10 criteria provided, single submitter research
Gharavi Laboratory,Columbia University RCV000724675 SCV000920679 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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