ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)

gnomAD frequency: 0.00001  dbSNP: rs938611392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670728 SCV000795621 uncertain significance Sandhoff disease 2017-11-10 criteria provided, single submitter clinical testing
Invitae RCV000670728 SCV001403052 likely pathogenic Sandhoff disease 2023-09-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 150 of the HEXB protein (p.Thr150Pro). This variant is present in population databases (no rsID available, gnomAD no frequency). This missense change has been observed in individual(s) with Sandhoff disease (PMID: 22848519, 23046579). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 554994). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV000670728 SCV002084938 likely pathogenic Sandhoff disease 2020-10-30 no assertion criteria provided clinical testing

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