ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.571_574del (p.Glu191fs)

dbSNP: rs1749127843
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224279 SCV001396467 pathogenic Sandhoff disease 2024-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu191Profs*15) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HEXB-related conditions. ClinVar contains an entry for this variant (Variation ID: 952216). For these reasons, this variant has been classified as Pathogenic.

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