ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)

gnomAD frequency: 0.00001  dbSNP: rs1555475519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673606 SCV000798830 likely pathogenic Tay-Sachs disease 2018-03-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000673606 SCV003929044 pathogenic Tay-Sachs disease 2023-04-27 criteria provided, single submitter clinical testing Variant summary: HEXA c.72G>A (p.Trp24X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251238 control chromosomes (gnomAD). To our knowledge, no occurrence of c.72G>A in individuals affected with Tay-Sachs Disease and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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