Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000416424 | SCV000815194 | pathogenic | Tay-Sachs disease | 2018-03-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp485*) in the HEXA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Tay-Sachs disease (PMID: 23852624). ClinVar contains an entry for this variant (Variation ID: 375365). Loss-of-function variants in HEXA are known to be pathogenic (PMID: 1833974, 8490625). For these reasons, this variant has been classified as Pathogenic. |
Foundation for Research in Genetics and Endocrinology, |
RCV000416424 | SCV000494228 | pathogenic | Tay-Sachs disease | 2012-03-24 | no assertion criteria provided | research |