ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1404del (p.Asp470fs)

dbSNP: rs2112180987
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956231 SCV002245912 pathogenic Sandhoff disease 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp470Ilefs*60) in the HEXB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 87 amino acid(s) of the HEXB protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Sandhoff disease (PMID: 24915922, 27021291). ClinVar contains an entry for this variant (Variation ID: 1458169). 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; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001956231 SCV005666646 likely pathogenic Sandhoff disease 2024-01-22 criteria provided, single submitter clinical testing

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