ClinVar Miner

Submissions for variant NC_000004.11:g.(?_4861627)_(6304195_?)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 RCV003107680 SCV003794671 pathogenic Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2022-09-02 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MSX1 gene has been identified. Loss-of-function variants in MSX1 are known to be pathogenic (PMID: 9742121, 10742093). 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 MSX1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 14630905). For these reasons, this variant has been classified as Pathogenic.

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