ClinVar Miner

Submissions for variant NC_000005.10:g.(?_74685261)_(74697106_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707942 SCV000837052 pathogenic Sandhoff disease 2017-06-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-5 of the HEXB gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 5 of the HEXB gene. This is expected to result in an absent or disrupted protein product. This variant has been reported in individuals affected with Sandhoff disease (PMID: 2921040, 23010210). Loss-of-function variants in HEXB are known to be pathogenic (PMID: 18758829, 7550345). For these reasons, this variant has been classified as Pathogenic.

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