Submissions for variant NM_000267.3(NF1):c.3586C>G (p.Leu1196Val) (rs1555615039)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc	RCV000660038	SCV000781990	likely pathogenic	Neurofibromatosis, type 1	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000660038	SCV000958325	uncertain significance	Neurofibromatosis, type 1	2019-09-04	criteria provided, single submitter	clinical testing	This sequence change replaces leucine with valine at codon 1196 of the NF1 protein (p.Leu1196Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with clinical features of neurofibromatosis type 1 (PMID: 26740943, Invitae). ClinVar contains an entry for this variant (Variation ID: 547629). 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"). This variant disrupts the p.Leu1196 amino acid residue in NF1. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 15060124, 17103458, 22664660, 23047742, 27838393), which suggests that this may be a clinically significant amino acid residue. 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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