ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2802C>G (p.Phe934Leu)

gnomAD frequency: 0.00007  dbSNP: rs138210821
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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 RCV001370382 SCV001566859 uncertain significance Familial acute necrotizing encephalopathy 2020-09-03 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: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with RANBP2-related conditions. This sequence change replaces phenylalanine with leucine at codon 934 of the RANBP2 protein (p.Phe934Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs138210821, ExAC 0.005%).
Ambry Genetics RCV004037469 SCV003576714 uncertain significance not specified 2021-08-09 criteria provided, single submitter clinical testing The c.2802C>G (p.F934L) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a C to G substitution at nucleotide position 2802, causing the phenylalanine (F) at amino acid position 934 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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