ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.239A>C (p.Tyr80Ser) (rs4795581)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575886 SCV000674110 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000553141 SCV000628437 uncertain significance Neurofibromatosis, type 1 2017-08-23 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 80 of the NF1 protein (p.Tyr80Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. 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 disease. 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: "Tolerated"; 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000613716 SCV000712132 uncertain significance not specified 2016-05-16 criteria provided, single submitter clinical testing The p.Tyr80Ser variant in NF1 has not been previously reported in individuals wi th clinical features of a RASopathy or in large population studies. Computationa l prediction tools and conservation analysis do not provide strong support for o r against an impact to the protein. In summary, the clinical significance of the p.Tyr80Ser variant is uncertain.

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