ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.965del (p.Ile322fs)

gnomAD frequency: 0.00001  dbSNP: rs768438206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673580 SCV000798799 likely pathogenic Sandhoff disease 2018-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673580 SCV000931638 pathogenic Sandhoff disease 2018-10-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HEXB are known to be pathogenic (PMID: 7550345, 18758829). This variant has been observed to segregate with Sandhoff disease in a family (PMID: 18758829). ClinVar contains an entry for this variant (Variation ID: 557437). This variant is present in population databases (rs768438206, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Ile322Lysfs*5) in the HEXB gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000004092 SCV000024258 pathogenic Sandhoff disease, infantile form 2009-02-01 no assertion criteria provided literature only

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