ClinVar Miner

Submissions for variant NC_000008.11:g.(?_115586981)_(115587624_?)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 RCV001031776 SCV001195082 pathogenic Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 2023-08-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the TRPS1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in TRPS1 are known to be pathogenic (PMID: 11112658). A similar copy number variant has been observed in individuals with trichorhinophalangeal syndrome (PMID: 21850686, 25792522). For these reasons, this variant has been classified as Pathogenic.

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