ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs) (rs1554080460)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000584795 SCV000692545 pathogenic Crouzon syndrome; Treacher Collins syndrome 2016-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000486897 SCV000566617 pathogenic not provided 2015-05-14 criteria provided, single submitter clinical testing The c.3970dupG duplication in the TCOF1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3970dupG variant wasnot observed in approximately 6,500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. Although thisvariant has not been previously reported to our knowledge, we interpret it as pathogenic.

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