Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000242608 | SCV000304643 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000279029 | SCV000331537 | other | not provided | 2016-04-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000279029 | SCV000493276 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | HEXA: PP3, BS2 |
Invitae | RCV000549043 | SCV000629536 | other | Tay-Sachs disease | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000242608 | SCV000697173 | benign | not specified | 2021-12-27 | criteria provided, single submitter | clinical testing | Variant summary: HEXA c.739C>T (p.Arg247Trp) 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 allele was found at a frequency of 0.0015 in 251482 control chromosomes in the gnomAD database, including 1 homozygotes. The observed variant frequency is slight higher than the estimated maximal expected allele frequency for a pathogenic variant in HEXA causing Tay-Sachs Disease phenotype (0.0014). About 35% of non-Jewish individuals identified as heterozygotes by HEX A enzyme-based testing are carriers of a pseudodeficiency allele. About 2% of Jewish individuals identified as heterozygotes by HEX A enzyme-based testing in carrier screening programs are actually heterozygous for the variant of interest. c.739C>T is widely accepted in the field as benign pseudodeficient allele. c.739C>T has been reported in the literature in individuals affected with Tay-Sachs Disease. These reports do not provide unequivocal conclusions about association of the variant with Tay-Sachs Disease. At least one publication reports experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant (Cao_1997). Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as benign. |
Gene |
RCV000279029 | SCV001812632 | benign | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31692161, 29482223, 26990548, 19858779, 22975760, 1384323, 17259242, 9169471) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000279029 | SCV004219906 | benign | not provided | 2022-08-26 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000004128 | SCV000024294 | pathogenic | Beta-hexosaminidase a, pseudodeficiency of | 1993-08-01 | no assertion criteria provided | literature only |