ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.703T>C (p.Tyr235His) (rs864622465)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221863 SCV000275873 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000205078 SCV000260729 uncertain significance Neurofibromatosis, type 1 2015-09-19 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 235 of the NF1 protein (p.Tyr235His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases and has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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