ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)

dbSNP: rs1748943719
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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. RCV001264046 SCV001442146 likely pathogenic Sandhoff disease 2019-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001264046 SCV003345161 pathogenic Sandhoff disease 2022-06-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 984041). This premature translational stop signal has been observed in individual(s) with Sandhoff disease (PMID: 26582265). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp111*) in the HEXB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HEXB are known to be pathogenic (PMID: 7550345, 18758829).

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