ClinVar Miner

Submissions for variant NC_000016.10:g.(?_88814419)_(88856897_?)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 RCV000633468 SCV000754697 pathogenic Mucopolysaccharidosis, MPS-IV-A 2022-10-28 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GALNS gene has been identified. Loss-of-function variants in GALNS are known to be pathogenic (PMID: 12442278). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of GALNS have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 8829629, 10479485). For these reasons, this variant has been classified as Pathogenic.

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