Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000733417 | SCV000861483 | pathogenic | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000011481 | SCV001478710 | pathogenic | Fabry disease | 2021-01-12 | criteria provided, single submitter | clinical testing | Variant summary: GLA c.797A>T (p.Asp266Val) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 183472 control chromosomes. c.797A>T has been reported in the literature in multiple individuals affected with Fabry Disease (ie Eng_1993, Germain_2015, etc). These data indicate that the variant is very likely to be associated with disease. Experimental studies in cells expressing the variant have reported the variant to have absent alpha-Gal activity (Siekierska_2012, Wu_2011). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Genome- |
RCV000011481 | SCV002054405 | pathogenic | Fabry disease | 2021-07-15 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000011481 | SCV000031713 | pathogenic | Fabry disease | 1993-12-01 | no assertion criteria provided | literature only |