Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000004137 | SCV000792346 | uncertain significance | Tay-Sachs disease | 2017-06-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001778646 | SCV002014959 | uncertain significance | not specified | 2021-10-18 | criteria provided, single submitter | clinical testing | Variant summary: HEXA c.611A>G (p.His204Arg) results in a non-conservative amino acid change located in the Glycoside hydrolase family 20, catalytic domain of 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 251484 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.611A>G has been reported in the literature in one individual affected with Tay-Sachs Disease (Akli_1993). This report does not provide unequivocal conclusions about association of the variant with Tay-Sachs Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Ce |
RCV002054413 | SCV002497798 | likely pathogenic | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | HEXA: PM2, PM3, PP3, PP4 |
Mendelics | RCV000004137 | SCV002517275 | likely pathogenic | Tay-Sachs disease | 2022-05-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000004137 | SCV000024303 | affects | Tay-Sachs disease | 1993-01-01 | no assertion criteria provided | literature only |