ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.4317del (p.Gln1440fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV003335943 SCV004046316 pathogenic Clark-Baraitser syndrome criteria provided, single submitter clinical testing This frameshifting variant in exon 27 of 50 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. Loss-of-function variation in TRIP12 is reported in individuals with Clark-Baraitser syndrome (PMID: 27848077, 28251352). The c.4092del (p.Gln1365SerfsTer20) variant is absent from the gnomAD population database and thus is presumed to be rare. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.4092del (p.Gln1365SerfsTer20) variant is classified as Pathogenic.

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