ClinVar Miner

Submissions for variant NM_014112.5(TRPS1):c.2700+1G>A

dbSNP: rs1586430684
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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 RCV000804556 SCV000944472 pathogenic Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 2018-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TRPS1 are known to be pathogenic (PMID: 11112658). Disruption of this splice site (c.2700+1delG) has been observed to be de novo in an individual with tricho-rhino-phalangeal syndrome type I (PMID: 23293878). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 5 of the TRPS1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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