ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.5938A>G (p.Ser1980Gly)

gnomAD frequency: 0.00001  dbSNP: rs749300014
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001785207 SCV002025742 uncertain significance Clark-Baraitser syndrome 2020-05-01 criteria provided, single submitter clinical testing The inherited c.5857A>G (p.Ser1953Gly) missense variant in exon 41 of 42 of TRIP12 has not been reported in affected individuals in the available literature. This variant is not present in gnomAD indicating it is not a common benign variant in the populations represented in this database. The missense change is localized in the conserved HECT domain of the TRIP12 protein and In silico predictors suggest this variant is Neutral (Provean; score: -2.35) and Tolerated (SIFT; score: 0.112). Given the conflicting evidence regarding its pathogenicity, the inherited c.5857A>G (p.Ser1953Gly) variant identified in the TRIP12 gene is reported as a Variant of Uncertain Significance.

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