ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.611A>G (p.His204Arg)

dbSNP: rs121907976
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Total submissions: 5
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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, LabCorp 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.
CeGaT Center for Human Genetics Tuebingen 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

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