ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.283del (p.Glu95fs)

dbSNP: rs1748845774
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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 RCV001240185 SCV001413110 pathogenic Sandhoff disease 2021-06-30 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: 965677). This variant has not been reported in the literature in individuals affected with HEXB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu95Argfs*59) 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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