ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2T>A (p.Met1Lys)

dbSNP: rs1694042679
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325477 SCV001516470 uncertain significance Familial acute necrotizing encephalopathy 2022-05-20 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1025191). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the RANBP2 mRNA. The next in-frame methionine is located at codon 27.

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