ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)

gnomAD frequency: 0.00001  dbSNP: rs759092928
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586108 SCV000697166 likely pathogenic Tay-Sachs disease 2016-06-09 criteria provided, single submitter clinical testing Variant summary: The HEXA c.187G>T (p.Glu63X) variant results in a premature termination codon, predicted to cause a truncated or absent HEXA protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable clinical laboratories/databases. Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as a "Probable Disease Variant/Likely Pathogenic," until additional information becomes available.
Labcorp Genetics (formerly Invitae), Labcorp RCV000586108 SCV003450471 pathogenic Tay-Sachs disease 2024-03-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu63*) 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. ClinVar contains an entry for this variant (Variation ID: 496010). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000586108 SCV000792481 likely pathogenic Tay-Sachs disease 2017-06-26 no assertion criteria provided clinical testing
Natera, Inc. RCV000586108 SCV002089760 likely pathogenic Tay-Sachs disease 2017-08-17 no assertion criteria provided clinical testing

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