Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001381293 | SCV001579615 | pathogenic | Tay-Sachs disease | 2022-01-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1069429). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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). |
Gene |
RCV001381293 | SCV002011833 | likely pathogenic | Tay-Sachs disease | 2019-02-07 | criteria provided, single submitter | clinical testing | This variant creates a premature translational stop signal referred as p.Tyr366Ter or p.Y366* in the HEXA gene. It is expected to result in an absent or disrupted protein product. This mutation is considered a non-tolerated amino acid change based on “in silico” prediction algorithms (disease causing). This variant is present in the gnomAD exomes database at a frequency of 0.000004. For these reasons, we consider this finding as a "likely pathogenic variant" related to Tay-Sachs Disease. |