ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del)

dbSNP: rs760427424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667162 SCV000791569 uncertain significance Sandhoff disease 2017-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667162 SCV001383832 uncertain significance Sandhoff disease 2022-04-15 criteria provided, single submitter clinical testing This variant, c.343_351del, results in the deletion of 3 amino acid(s) of the HEXB protein (p.Pro115_Glu117del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760427424, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HEXB-related conditions. ClinVar contains an entry for this variant (Variation ID: 551981). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000667162 SCV002084936 uncertain significance Sandhoff disease 2019-10-28 no assertion criteria provided clinical testing

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