ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.2071G>T (p.Val691Phe)

gnomAD frequency: 0.00001  dbSNP: rs1305168076
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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 RCV001291782 SCV001480401 uncertain significance Clark-Baraitser syndrome 2020-04-20 criteria provided, single submitter clinical testing The heterozygous c.2071G>T (p.Val691Phe) variant identified in the TRIP12 gene substitutes a completely conserved Valine for Phenylalanine at amino acid 691/2042 (coding exon 15/42). This variant is found with low frequency in gnomAD (2 heterozygotes, 0 homozygotes; allele frequency: 1.40e-5) suggesting it is not a common benign variant in the populations represented in this database. In silico algorithms predict this variant to be Deleterious (Provean; score:-2.97) and Damaging (SIFT; score: 0.001) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individualsin the literature. The p.Val691 residue is not within a mapped domain of TRIP12, and is N-terminal to the WWE domain (UniProt:Q14669). Given the lack of compelling evidence for its pathogenicity, the c.2071G>T (p.Val691Phe) variant identified in the TRIP12 gene is reported here as a Variant of Uncertain Significance.

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