ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6388del (p.Ile2130fs)

dbSNP: rs1597843169
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009122 SCV001168933 pathogenic not provided 2018-11-05 criteria provided, single submitter clinical testing The c.6325delA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). It causes a frameshift starting with codon Isoleucine 2109, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Ile2109PhefsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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