ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) (rs1007338250)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000761558 SCV000889930 pathogenic Sandhoff disease 2019-03-12 criteria provided, single submitter clinical testing The R100X variant in the HEXB gene has been reported in 2 Indian patients with autosomal recessive Sandhoff disease (Tamhankar et al 2015) and is absent in the gnomAD database. Furthermore, nonsense mutations affecting HEXB gene is a known disease mechanism for Sandhoff disease and the R100X variant has been predicted to be pathogenic in silico by DANN, GERP, LRT and MutationTaster. In summary, the R100X variant meets the ACMG criteria to be classified as pathogenic based upon literature, absence from controls and computational evidence.
Baylor Genetics RCV000761558 SCV001162988 pathogenic Sandhoff disease criteria provided, single submitter clinical testing

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