ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.8190A>C (p.Lys2730Asn)

gnomAD frequency: 0.00001  dbSNP: rs1160561861
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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 RCV001204135 SCV001375328 uncertain significance Familial acute necrotizing encephalopathy 2023-08-17 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 935523). 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 0.01%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 2730 of the RANBP2 protein (p.Lys2730Asn).
Ambry Genetics RCV004033603 SCV004934427 uncertain significance not specified 2024-02-17 criteria provided, single submitter clinical testing The c.8190A>C (p.K2730N) alteration is located in exon 23 (coding exon 23) of the RANBP2 gene. This alteration results from a A to C substitution at nucleotide position 8190, causing the lysine (K) at amino acid position 2730 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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