ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6574T>C (p.Tyr2192His)

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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 RCV001025360 SCV001187533 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-12 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001043155 SCV001206873 uncertain significance Neurofibromatosis, type 1 2019-11-25 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 2171 of the NF1 protein (p.Tyr2171His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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