ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.641T>C (p.Leu214Pro)

dbSNP: rs1601618585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Swedish Neurofibromatosis Center, Swedish Medical Center RCV000857311 SCV000996299 likely pathogenic Neurofibromatosis, type 2 2019-10-18 criteria provided, single submitter clinical testing CLINICAL: a.Bilateral vestibular schwannomas, tinnitus age 8. PP4 b. Assumed de novo. PM6 VARSOME: a. Functional domain. PM1 b. Absent in population. PM2 c. Pathogenic in silico. PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV000857311 SCV001210152 uncertain significance Neurofibromatosis, type 2 2019-12-03 criteria provided, single submitter clinical testing 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. 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 has not been reported in the literature in individuals with NF2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 214 of the NF2 protein (p.Leu214Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Genome-Nilou Lab RCV000857311 SCV002045401 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing

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