ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3754A>T (p.Met1252Leu)

gnomAD frequency: 0.00001  dbSNP: rs1288871552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204780 SCV001376001 uncertain significance Familial acute necrotizing encephalopathy 2022-02-08 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 936057). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1252 of the RANBP2 protein (p.Met1252Leu).
Ambry Genetics RCV004033627 SCV003692581 uncertain significance not specified 2022-10-03 criteria provided, single submitter clinical testing The c.3754A>T (p.M1252L) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a A to T substitution at nucleotide position 3754, causing the methionine (M) at amino acid position 1252 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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