Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410898 | SCV000487264 | likely pathogenic | Tay-Sachs disease | 2016-11-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000410898 | SCV002809951 | likely pathogenic | Tay-Sachs disease | 2021-10-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000410898 | SCV003445494 | pathogenic | Tay-Sachs disease | 2022-08-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371633). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. This variant is present in population databases (rs751393950, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Gln28*) in the HEXA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HEXA are known to be pathogenic (PMID: 1833974, 8490625). |