ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.529C>T (p.Gln177Ter)

dbSNP: rs1749120310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264047 SCV001442147 likely pathogenic Sandhoff disease 2019-03-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264047 SCV003929047 likely pathogenic Sandhoff disease 2023-04-12 criteria provided, single submitter clinical testing Variant summary: HEXB c.529C>T (p.Gln177X) 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 247878 control chromosomes. To our knowledge, no occurrence of c.529C>T in individuals affected with Sandhoff 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 likely pathogenic.

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