ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1056del (p.Arg353fs)

dbSNP: rs1601644130
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009090 SCV001168900 pathogenic not provided 2019-08-20 criteria provided, single submitter clinical testing The c.1056delG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant causes a frameshift starting with codon Arginine 353, changes this amino acid to an Glysine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Arg353GlyfsX11. 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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