ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.3624+1G>A

dbSNP: rs2471540906
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018269 SCV004847314 likely pathogenic Neurodevelopmental disorder 2023-08-29 criteria provided, single submitter clinical testing The c.3624+1G>A splice site variant in TRIP12 has not been previously reported in individuals with autosomal dominant complex neurodevelopmental disorder (also known as intellectual developmental disorder 49 and Clark-Baraitser Syndrome, OMIM: 617752). This variant was absent from large population studies (http://gnomad.broadinstitute.org). This variant occurs within the canonical splice site (+/- 1,2) and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the TRIP12 gene is an established disease mechanism in autosomal dominant complex neurodevelopmental disorder (Bramswig 2017 PMID: 27848077, Zhang 2017 PMID: 28251352). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic. ACMG/AMP Criteria applied: PVS1_Strong, PM2_Supporting.

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