Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001263881 | SCV001441979 | likely pathogenic | Tay-Sachs disease | 2019-09-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001263881 | SCV003233246 | pathogenic | Tay-Sachs disease | 2022-10-13 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 983878). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HEXA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr366*) 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). |