ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter)

dbSNP: rs979690054
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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).
GeneID Lab - Advanced Molecular Diagnostics 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.

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