ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)

dbSNP: rs761117459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674196 SCV000799492 pathogenic Sandhoff disease 2018-04-25 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000674196 SCV002817381 pathogenic Sandhoff disease 2022-12-26 criteria provided, single submitter clinical testing A compound heterozygous status for the variant c.333G>A in Exon 2 of the HEXB gene was detected. The variants have not been reported in the 1000 genomes database and has a MAF of 0.0008% in the gnomAD database. The in-silico prediction is disease causing by Mutation Taster and DANN. In summary, the variant meets our criteria to be classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000674196 SCV003294567 pathogenic Sandhoff disease 2024-08-23 criteria provided, single submitter clinical testing 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). This variant is present in population databases (rs761117459, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Sandhoff disease (PMID: 26582265). ClinVar contains an entry for this variant (Variation ID: 557986). For these reasons, this variant has been classified as Pathogenic.

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