ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.586delinsTTAA (p.Glu196delinsLeuLys) (rs1555607123)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521651 SCV000618493 likely pathogenic not provided 2017-10-13 criteria provided, single submitter clinical testing The c.586delGinsTTAA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It has been observed at GeneDx to occur apparently de novo in an individual. This variant results in the in-frame replacement of one correct amino acid with two incorrect amino acids. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant occurs at a position that is conserved across species. Several in silico splice prediction models predict that c.586delGinsTTAA destroys the natural splice donor site for intron 5; however, the in silico models also predict the variant results in the creation of a new splice donor site with similar or equal strength. In the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. In summary, we consider this variant to be likely pathogenic.

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