ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4967_4972TCTATA[1] (p.Ile1658_Tyr1659del) (rs1135402868)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680826 SCV000808274 likely pathogenic not provided 2018-07-12 criteria provided, single submitter clinical testing The c.4973_4978delTCTATA variant has been reported previously in association with neurofibromatosis type 1 (Wu et al., 1999). The variant is not observed in large population cohorts (Lek et al., 2016). It results in the in-frame deletion of 2 amino acids. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, we consider this variant to be likely pathogenic.
Invitae RCV000497071 SCV000817609 likely pathogenic Neurofibromatosis, type 1 2018-08-16 criteria provided, single submitter clinical testing This variant, c.4973_4978delTCTATA, results in the deletion of 2 amino acids of the NF1 protein (p.Ile1658_Tyr1659del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with neurofibromatosis type 1 (Invitae) and has also been reported in other affected individuals (PMID: 10534774). ClinVar contains an entry for this variant (Variation ID: 431651). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Medical Genetics,University of Parma RCV000497071 SCV000588795 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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