ClinVar Miner

Submissions for variant NM_017671.4(FERMT1):c.676dup (p.Gln226fs) (rs748240859)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481477 SCV000567497 pathogenic not provided 2015-08-19 criteria provided, single submitter clinical testing The c.676dupC duplication in the FERMT1 gene has been reported previously in association with KindlerSyndrome (Ashton et al. 2004, Shaiq et al., 2012). The c.676dupC duplication causes a frameshift startingwith codon Gln226, changes this amino acid to a Proline residue, and creates a premature Stop codon atposition 17 of the new reading frame, denoted p.Gln226ProfsX17. This variant is predicted to cause lossof normal protein function either through protein truncation or nonsense-mediated mRNA decay. Thec.676dupC variant was not observed in a small number of individuals of African American ancestry inthe NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.We interpret c.676dupC as a pathogenic variant.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000789034 SCV000928373 pathogenic Kindler's syndrome 2018-07-10 criteria provided, single submitter clinical testing PVS1, PM2, PP4, PP5

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