ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs)

dbSNP: rs1749803258
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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 RCV001244478 SCV001417700 pathogenic Sandhoff disease 2023-01-13 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. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Tyr492Asnfs*5) 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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