ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1A>G (p.Met1Val)

dbSNP: rs1319282473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229737 SCV001402192 uncertain significance Neurofibromatosis, type 2 2022-02-11 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the NF2 mRNA. The next in-frame methionine is located at codon 9. This variant is not present in population databases (gnomAD 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: 956856). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV001751446 SCV001985707 uncertain significance not provided 2019-04-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31130284)
Genome-Nilou Lab RCV001229737 SCV002045429 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing

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