Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388869 | SCV001590019 | pathogenic | Tay-Sachs disease | 2020-03-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HEXA are known to be pathogenic (PMID: 1833974, 8490625). This variant has not been reported in the literature in individuals with HEXA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val97Leufs*8) in the HEXA gene. It is expected to result in an absent or disrupted protein product. |