ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) (rs759092928)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America 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.
Counsyl RCV000586108 SCV000792481 likely pathogenic Tay-Sachs disease 2017-06-26 no assertion criteria provided clinical testing

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