ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4606dup (p.Thr1536fs) (rs1555619033)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000660062 SCV000782030 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000599245 SCV000710063 pathogenic not provided 2017-11-14 criteria provided, single submitter clinical testing The c.4606dupA variant in the NF1 gene has been reported previously in association with NF1 (Bianchessi et al., 2015). The duplication causes a frameshift starting with codon Threonine 1536, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Thr1536AsnfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.

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