ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1783C>T (p.Leu595Phe)

dbSNP: rs1601689027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795725 SCV000935196 uncertain significance Neurofibromatosis, type 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 595 of the NF2 protein (p.Leu595Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 642286). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Ambry Genetics RCV001013140 SCV001173684 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-31 criteria provided, single submitter clinical testing The p.L595F variant (also known as c.1783C>T), located in coding exon 16 of the NF2 gene, results from a C to T substitution at nucleotide position 1783. The leucine at codon 595 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000795725 SCV002044917 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing

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