ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer)

dbSNP: rs1554037137
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674128 SCV000799407 likely pathogenic Sandhoff disease 2018-04-17 criteria provided, single submitter clinical testing
Invitae RCV000674128 SCV002227726 pathogenic Sandhoff disease 2021-11-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 557927). This variant has not been reported in the literature in individuals affected with HEXB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg531Leufs*2) in the HEXB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acid(s) of the HEXB protein.

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