ClinVar Miner

Submissions for variant NM_194456.1(KRIT1):c.1524_1528del (p.Arg510fs) (rs1057517754)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413088 SCV000490588 pathogenic not provided 2015-03-25 criteria provided, single submitter clinical testing The c.1524_1528delAAGAA pathogenic variant in the KRIT1 gene causes a frameshift starting with codon Arginine 510, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Arg510CysfsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, we interpret it as pathogenic.
PreventionGenetics,PreventionGenetics RCV000413088 SCV000852994 likely pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000413088 SCV001246664 pathogenic not provided 2018-01-01 criteria provided, single submitter clinical testing

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