ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3197G>A (p.Arg1066Lys) (rs1555614652)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519919 SCV000617580 likely pathogenic not provided 2017-08-03 criteria provided, single submitter clinical testing The R1066K variant has been reported in the Human Gene Mutation Database in association with neurofibromatosis type 1; however, the variant was obtained via personal communication and no additional information is available (Stenson et al., 2014). The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). R1066K is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position within the GTPase activating domain that is conserved across species. In silico analysis predicts R1066K results in the loss of the natural splice donor site of intron 24. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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