ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs)

dbSNP: rs1554037129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669540 SCV000794301 likely pathogenic Sandhoff disease 2017-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669540 SCV002134938 pathogenic Sandhoff disease 2021-07-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HEXB-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the HEXB protein in which other variant(s) (p.Cys534*) have been determined to be pathogenic (PMID: 29448188, 30075786). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp521Glufs*5) in the HEXB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 36 amino acid(s) of the HEXB protein.

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