ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1417+5G>A

gnomAD frequency: 0.00002  dbSNP: rs763517499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673197 SCV000798373 uncertain significance Sandhoff disease 2018-03-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310506 SCV001500338 likely pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000673197 SCV004174818 likely pathogenic Sandhoff disease 2023-12-08 criteria provided, single submitter clinical testing A heterozygous 5’ splice site variant in intron 11 of the HEXB gene was detected. The observed variant has not been reported in the 1000 genomes and has a minor allele frequency of 0.0016% in the gnomAD database. The in-silico prediction of the variant is disease causing by MutationTaster2 and SpliceAI. The reference base is conserved across mammals. In summary, the variant meets our criteria to be classified as likely pathogenic.

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