ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.703del (p.Leu235fs) (rs760830696)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194845 SCV000249142 pathogenic Meckel syndrome type 8 2015-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000338833 SCV000330632 pathogenic not provided 2016-07-08 criteria provided, single submitter clinical testing The c.703delC pathogenic variant in the TCTN2 gene causes a frameshift starting with codon Leucine 235, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 52 of the new reading frame, denoted p.L235CfsX52. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this variant has not been previously reported to our knowledge, it is interpreted as a pathogenic variant.

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