ClinVar Miner

Submissions for variant NM_006180.6(NTRK2):c.2218del (p.Ser740fs)

dbSNP: rs1554788562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627581 SCV000748581 uncertain significance not provided 2018-04-22 criteria provided, single submitter clinical testing The c.2218delA variant in the NTRK2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2218delA variant causes a frameshift starting with codon Serine 740, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 39 of the new reading frame, denoted p.Ser740AlafsX39. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2218delA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2218delA as a variant of uncertain significance

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